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<meta name="keywords" content="C2673946, finding, foveal hypoplasia, fvh, hypoplasia of the fovea, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Underdevelopment of the fovea centralis." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=393047
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ConceptID=C2673946
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplasia of the fovea</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2673946</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Foveal hypoplasia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007750">HP:0007750</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044203" target="_blank">MONDO:0044203</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS136520" target="_blank">PS136520</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Underdevelopment of the fovea centralis. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Hypoplasia of the fovea</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870303" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the eye">Aplasia/Hypoplasia affecting the eye</a></span><ul><li><span class="TLline"><a href="/medgen/870302" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia affecting the fundus">Aplasia/Hypoplasia affecting the fundus</a></span><ul><li><span class="TLline"><a href="/medgen/870298" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the retina">Aplasia/Hypoplasia of the retina</a></span><ul><li><span class="TLline"><a href="/medgen/870300" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the macula">Aplasia/Hypoplasia of the macula</a></span><ul><li><span class="TLline"><a href="/medgen/870299" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the fovea">Aplasia/Hypoplasia of the fovea</a></span><ul><li><span class="matched_ds">Hypoplasia of the fovea</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_7049"><div><strong>Incontinentia pigmenti syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7049</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0021171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: I.. Blistering (birth to age ~4 months). II.. Wart-like rash (for several months). III.. Swirling macular hyperpigmentation (age ~6 months into adulthood). IV.. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82810"><div><strong>Tyrosinase-positive oculocutaneous albinism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82810</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001). OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82810">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120643"><div><strong>Aland island eye disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120643</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120643">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90991"><div><strong>Ocular albinism, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90991</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90991">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_576337"><div><strong>Aniridia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>576337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/576337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91031"><div><strong>Irido-corneo-trabecular dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344559</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375938"><div><strong>Amish lethal microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375938</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC25A19-related thiamine metabolism dysfunction (SLC25A19 deficiency) is characterized by two phenotypes: Amish lethal microcephaly and thiamine metabolism dysfunction syndrome 4 (THMD-4). Amish lethal microcephaly is characterized by severe congenital microcephaly, developmental delay, seizures, 2-oxoglutaric aciduria, and often premature death. THMD-4 is characterized by febrile illness-associated episodic encephalopathy, progressive polyneuropathy, and bilateral striatal necrosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375938">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387867"><div><strong>Achromatopsia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1857618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462318"><div><strong>Microphthalmia, isolated, with coloboma 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483344"><div><strong>Hermansky-Pudlak syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483344</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3484357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483344">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811705"><div><strong>Oculocutaneous albinism type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3805375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811934"><div><strong>Foveal hypoplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811934</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3805604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal Hypoplasia Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23. Foveal hypoplasia-3 (FVH3; 620958) is caused by mutation in the AHR gene (600253) on chromosome 7p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811934">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814203"><div><strong>Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814203</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3807873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (136520).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814203">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854711"><div><strong>Hermansky-Pudlak syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854711</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3888004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854711">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854728"><div><strong>Hermansky-Pudlak syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854728</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3888026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854888"><div><strong>Oculocutaneous albinism type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854888</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3888401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854888">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904646"><div><strong>Achromatopsia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904646</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904646">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1374358"><div><strong>Bardet-biedl syndrome 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374358</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4319932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1374358">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1643910"><div><strong>Tyrosinase-negative oculocutaneous albinism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643910</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">There are several additional, rare types of oculocutaneous albinism.\n\nOculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. \n\nResearchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.\n\nOculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643910">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1684784"><div><strong>Developmental and epileptic encephalopathy, 83</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684784</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5231487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1754121"><div><strong>Oculocutaneous albinism type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1754121</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina (Pennamen et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1754121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1727728"><div><strong>Hermansky-Pudlak syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1727728</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1727728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824011"><div><strong>Intellectual developmental disorder with ocular anomalies and distinctive facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features (Huang et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1863661"><div><strong>Neuroocular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863661</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5925133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863661">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1856733"><div><strong>Microphthalmia/coloboma 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856733</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia/coloboma-11 (MCOPCB11) is characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Incomplete penetrance as well as intrafamilial and intraindividual phenotypic variability have been observed (Liu et al., 2016; Aubert-Mucca et al., 2021; Jiang et al., 2021; Holt et al., 2022). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856733">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achromatopsia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achromatopsia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aland island eye disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amish lethal microcephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_576337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (26)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1374358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-biedl syndrome 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 83</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811934" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Foveal hypoplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1727728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Incontinentia pigmenti syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with ocular anomalies and distinctive facial features</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irido-corneo-trabecular dysgenesis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with coloboma 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia/coloboma 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroocular syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ocular albinism, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854888" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1754121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinase-negative oculocutaneous albinism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82810" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinase-positive oculocutaneous albinism</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34981999">Referable Macular Hemorrhage-A Clinically Meaningful Screening Target in Newborn Infants. Position Statement of the Association of Pediatric Retina Surgeons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood EH,
|
||
Capone A Jr,
|
||
Drenser KA,
|
||
Berrocal A,
|
||
Hubbard GB,
|
||
Callaway NF,
|
||
Kychenthal A,
|
||
Ells A,
|
||
Harper CA 3rd,
|
||
Besirli CG,
|
||
Baumal CR,
|
||
Vavvas DG,
|
||
Chang EY,
|
||
Nudleman ED,
|
||
Tsui I,
|
||
Sears J,
|
||
Vajzovic L,
|
||
Hartnett ME,
|
||
Shapiro MJ,
|
||
Quiram PA,
|
||
Ozdek S,
|
||
Kusaka S,
|
||
Wu WC,
|
||
Trese MT</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2022 Jan;53(1):3-6.
|
||
Epub 2022 Jan 1
|
||
doi: 10.3928/23258160-20211214-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34981999" target="_blank">34981999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21071380">Anatomy, biomechanics, imaging, and management of ligamentum teres injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerezal L,
|
||
Kassarjian A,
|
||
Canga A,
|
||
Dobado MC,
|
||
Montero JA,
|
||
Llopis E,
|
||
Rolón A,
|
||
Pérez-Carro L</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2010 Oct;30(6):1637-51.
|
||
doi: 10.1148/rg.306105516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21071380" target="_blank">21071380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18937825">Aniridia: current pathology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee H,
|
||
Khan R,
|
||
O'Keefe M</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2008 Nov;86(7):708-15.
|
||
Epub 2008 Oct 6
|
||
doi: 10.1111/j.1755-3768.2008.01427.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18937825" target="_blank">18937825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypoplasia%20of%20the%20fovea)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37604659">Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wagner SK,
|
||
Romero-Bascones D,
|
||
Cortina-Borja M,
|
||
Williamson DJ,
|
||
Struyven RR,
|
||
Zhou Y,
|
||
Patel S,
|
||
Weil RS,
|
||
Antoniades CA,
|
||
Topol EJ,
|
||
Korot E,
|
||
Foster PJ,
|
||
Balaskas K,
|
||
Ayala U,
|
||
Barrenechea M,
|
||
Gabilondo I,
|
||
Schapira AHV,
|
||
Khawaja AP,
|
||
Patel PJ,
|
||
Rahi JS,
|
||
Denniston AK,
|
||
Petzold A,
|
||
Keane PA;
|
||
for UK Biobank Eye & Vision Consortium</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Oct 17;101(16):e1581-e1593.
|
||
Epub 2023 Aug 21
|
||
doi: 10.1212/WNL.0000000000207727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37604659" target="_blank">37604659</a><a href="/pmc/articles/PMC10585674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33746210">Ocular coloboma-a comprehensive review for the clinician.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lingam G,
|
||
Sen AC,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31090083">Long-term stability of an asymptomatic optic pit with foveolar retinoschisis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Besada E,
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Frauens B</span><br />
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<span class="medgenPMjournal">Clin Exp Optom</span>
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|
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<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
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Wilkinson CP,
|
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Bird A,
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Chakravarthy U,
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Chew E,
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Csaky K,
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Sadda SR;
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<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/17542978">Hypotony maculopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Costa VP,
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Arcieri ES</span><br />
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<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
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2007 Sep;85(6):586-97.
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Epub 2007 Jun 2
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doi: 10.1111/j.1600-0420.2007.00910.x.
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<span class="bold">PMID: </span><a href="/pubmed/17542978" target="_blank">17542978</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (320)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37604659">Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wagner SK,
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Williamson DJ,
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Struyven RR,
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Zhou Y,
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Patel S,
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Weil RS,
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Antoniades CA,
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Topol EJ,
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Korot E,
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Foster PJ,
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Balaskas K,
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Schapira AHV,
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Khawaja AP,
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Patel PJ,
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Rahi JS,
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Denniston AK,
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Petzold A,
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Keane PA;
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for UK Biobank Eye & Vision Consortium</span><br />
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<span class="medgenPMjournal">Neurology</span>
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2023 Oct 17;101(16):e1581-e1593.
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Epub 2023 Aug 21
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<span class="bold">PMID: </span><a href="/pubmed/37604659" target="_blank">37604659</a><a href="/pmc/articles/PMC10585674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/29784171">Unilateral isolated foveal hypoplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iqbal MM,
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Makar I</span><br />
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<span class="medgenPMjournal">Can J Ophthalmol</span>
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2018 Jun;53(3):e107-e109.
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<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
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Wilkinson CP,
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Bird A,
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Chakravarthy U,
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Chew E,
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Csaky K,
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Sadda SR;
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Beckman Initiative for Macular Research Classification Committee</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2013 Apr;120(4):844-51.
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Epub 2013 Jan 16
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doi: 10.1016/j.ophtha.2012.10.036.
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<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/18997616">Isolated foveal hypoplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Querques G,
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Bux AV,
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Iaculli C,
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<span class="bold">PMID: </span><a href="/pubmed/18997616" target="_blank">18997616</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17542978">Hypotony maculopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Costa VP,
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Arcieri ES</span><br />
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<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
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2007 Sep;85(6):586-97.
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Epub 2007 Jun 2
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doi: 10.1111/j.1600-0420.2007.00910.x.
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<span class="bold">PMID: </span><a href="/pubmed/17542978" target="_blank">17542978</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (475)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38300815">Hip Capsulolabral Complex: Anatomy, Disease, MRI Features, and Postoperative Appearance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Flores DV,
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2024 Feb;44(2):e230144.
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<span class="bold">PMID: </span><a href="/pubmed/38300815" target="_blank">38300815</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37955699">Relationship between the structure and microcirculation of the optic disc region and myopic traction maculopathy in highly myopic eyes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bai Y,
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Sui J,
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Li H,
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He Q,
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<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
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2024 Mar;262(3):801-811.
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Epub 2023 Nov 13
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<span class="bold">PMID: </span><a href="/pubmed/37955699" target="_blank">37955699</a><a href="/pmc/articles/PMC10907474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34102344">Clinical and Morphologic Characteristics of Extracellular Signal-Regulated Kinase Inhibitor-Associated Retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Francis JH,
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Canestraro J,
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Haggag-Lindgren D,
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Harding JJ,
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Diamond EL,
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Drilon A,
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Iyer G,
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Epub 2021 Jun 5
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<span class="bold">PMID: </span><a href="/pubmed/34102344" target="_blank">34102344</a><a href="/pmc/articles/PMC10977084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28159970">The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.</a></div>
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Hamel C,
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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<span class="bold">PMID: </span><a href="/pubmed/28159970" target="_blank">28159970</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26580417">Evaluation of the New "SAVE" Protocol in Diabetic Macular Edema Over the Course of Anti-VEGF Treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reznicek L,
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Bolz M,
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Kampik A,
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<span class="medgenPMjournal">Curr Eye Res</span>
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<span class="bold">PMID: </span><a href="/pubmed/26580417" target="_blank">26580417</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (67)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35157951">Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kuht HJ,
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Maconachie GDE,
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Han J,
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Kessel L,
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van Genderen MM,
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McLean RJ,
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Hisaund M,
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Tu Z,
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Hertle RW,
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Gronskov K,
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Bai D,
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Wei A,
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Li W,
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Jiao Y,
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Smirnov V,
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Choi JH,
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Tobin MD,
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Sheth V,
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Purohit R,
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Dawar B,
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Girach A,
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Strul S,
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May L,
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Chen FK,
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Heath Jeffery RC,
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Aamir A,
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Sano R,
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Jin J,
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Brooks BP,
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Kohl S,
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Arveiler B,
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Montoliu L,
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Engle EC,
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Proudlock FA,
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Nishad G,
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Pani P,
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Varma G,
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Gottlob I,
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Thomas MG</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2022 Jun;129(6):708-718.
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Epub 2022 Feb 11
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doi: 10.1016/j.ophtha.2022.02.010.
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<span class="bold">PMID: </span><a href="/pubmed/35157951" target="_blank">35157951</a><a href="/pmc/articles/PMC9341240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33148537">Normal and abnormal foveal development.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thomas MG,
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Papageorgiou E,
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Kuht HJ,
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Gottlob I</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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2022 May;106(5):593-599.
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Epub 2020 Nov 4
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|
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<span class="bold">PMID: </span><a href="/pubmed/33148537" target="_blank">33148537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31090083">Long-term stability of an asymptomatic optic pit with foveolar retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besada E,
|
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Frauens B</span><br />
|
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<span class="medgenPMjournal">Clin Exp Optom</span>
|
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2020 Mar;103(2):238-240.
|
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Epub 2019 May 15
|
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doi: 10.1111/cxo.12920.
|
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<span class="bold">PMID: </span><a href="/pubmed/31090083" target="_blank">31090083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17542978">Hypotony maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costa VP,
|
||
Arcieri ES</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2007 Sep;85(6):586-97.
|
||
Epub 2007 Jun 2
|
||
doi: 10.1111/j.1600-0420.2007.00910.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17542978" target="_blank">17542978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (147)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36971707">Microperimetry in Retinal Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Horie S,
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Corradetti G,
|
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Esmaeilkhanian H,
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Sadda SR,
|
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Cheung CMG,
|
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Ham Y,
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Chang A,
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Takahashi T,
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Ohno-Matsui K</span><br />
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<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
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2023 Mar-Apr 01;12(2):211-227.
|
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Epub 2023 Mar 24
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doi: 10.1097/APO.0000000000000597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36971707" target="_blank">36971707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35157951">Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuht HJ,
|
||
Maconachie GDE,
|
||
Han J,
|
||
Kessel L,
|
||
van Genderen MM,
|
||
McLean RJ,
|
||
Hisaund M,
|
||
Tu Z,
|
||
Hertle RW,
|
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Gronskov K,
|
||
Bai D,
|
||
Wei A,
|
||
Li W,
|
||
Jiao Y,
|
||
Smirnov V,
|
||
Choi JH,
|
||
Tobin MD,
|
||
Sheth V,
|
||
Purohit R,
|
||
Dawar B,
|
||
Girach A,
|
||
Strul S,
|
||
May L,
|
||
Chen FK,
|
||
Heath Jeffery RC,
|
||
Aamir A,
|
||
Sano R,
|
||
Jin J,
|
||
Brooks BP,
|
||
Kohl S,
|
||
Arveiler B,
|
||
Montoliu L,
|
||
Engle EC,
|
||
Proudlock FA,
|
||
Nishad G,
|
||
Pani P,
|
||
Varma G,
|
||
Gottlob I,
|
||
Thomas MG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2022 Jun;129(6):708-718.
|
||
Epub 2022 Feb 11
|
||
doi: 10.1016/j.ophtha.2022.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35157951" target="_blank">35157951</a><a href="/pmc/articles/PMC9341240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33148537">Normal and abnormal foveal development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas MG,
|
||
Papageorgiou E,
|
||
Kuht HJ,
|
||
Gottlob I</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 May;106(5):593-599.
|
||
Epub 2020 Nov 4
|
||
doi: 10.1136/bjophthalmol-2020-316348.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33148537" target="_blank">33148537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12917574">Paramacular coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pian D,
|
||
Ferrucci S,
|
||
Anderson SF,
|
||
Wu C</span><br />
|
||
<span class="medgenPMjournal">Optom Vis Sci</span>
|
||
2003 Aug;80(8):556-63.
|
||
doi: 10.1097/00006324-200308000-00008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12917574" target="_blank">12917574</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (240)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/25943737">Choroidal Thickness and Open-Angle Glaucoma: A Meta-Analysis and Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Yu M,
|
||
Wang F,
|
||
Dai Y,
|
||
Wu Z</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2016 May;25(5):e446-54.
|
||
doi: 10.1097/IJG.0000000000000275.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25943737" target="_blank">25943737</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplasia%20of%20the%20fovea%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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