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<meta name="keywords" content="C0151891, decreased fundus pigmentation, decreased retinal pigmentation, disease or syndrome, fundus hypopigmentation, hypopigmentation of fundus, hypopigmentation of the fundus, retinal depigmentation, retinal hypopigmentation, retinal pigment degeneration, 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="Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=101805
|
||
ConceptID=C0151891
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypopigmentation of the fundus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101805</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.">C0151891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Decreased retinal pigmentation; Hypopigmentation of fundus; Retinal depigmentation; Retinal hypopigmentation; Retinal pigment degeneration</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinal depigmentation (95694000)</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:0007894">HP:0007894</a></td></tr>
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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>
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||
<div class="portlet_content ln">Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). [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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0151891[DISCUI]&test_type=Clinical" ref="ncbi_uid=101805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hypopigmentation of the fundus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><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/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1644580" ref="tree=MeSH" title="MedGen record for Abnormality of fundus pigmentation">Abnormality of fundus pigmentation</a></span><ul><li><span class="matched_ds">Hypopigmentation of the fundus</span><ul><li><span class="TLline"><a href="/medgen/343835" ref="tree=MeSH" title="MedGen record for Absent retinal pigment epithelium">Absent retinal pigment epithelium</a></span></li><li><span class="TLline"><a href="/medgen/348171" ref="tree=MeSH" title="MedGen record for Achromatic retinal patches">Achromatic retinal patches</a></span></li><li><span class="TLline"><a href="/medgen/870372" ref="tree=MeSH" title="MedGen record for Depigmented fundus">Depigmented fundus</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<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">
|
||
<div class="divPopper rprt" id="rdis_944"><div><strong>Choroideremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>944</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:">C0008525</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/944">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_82815"><div><strong>Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82815</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.">C0268540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Neonatal onset (~8% of affected individuals). Manifestations of hyperammonemia usually begin 24-48 hours after feeding begins and can include lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures. Infantile, childhood, and adult onset (~92%). Affected individuals may present with: Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits, and/or unexplained seizures); Acute encephalopathy secondary to hyperammonemic crisis precipitated by a variety of factors; and Chronic liver dysfunction (unexplained elevation of liver transaminases with or without mild coagulopathy, with or without mild hyperammonemia and protein intolerance). Neurologic findings and cognitive abilities can continue to deteriorate despite early metabolic control that prevents hyperammonemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82815">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98213"><div><strong>Tietz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98213</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.">C0391816</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98213">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162915"><div><strong>Acrocallosal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162915</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.">C0796147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373199"><div><strong>Pierson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373199</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.">C1836876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373199">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333014"><div><strong>ABCD syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333014</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.">C1838099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337712"><div><strong>Oculocutaneous albinism type 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337712</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.">C1847024</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase. Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337712">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376211"><div><strong>Waardenburg syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376211</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.">C1847800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338324"><div><strong>Oculocutaneous albinism type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338324</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.">C1847836</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338324">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398476"><div><strong>Waardenburg syndrome type 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398476</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.">C2700405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463102"><div><strong>Nystagmus 6, congenital, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463102</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.">C3151752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463102">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481656"><div><strong>Hermansky-Pudlak syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481656</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.">C3280026</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/481656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</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.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ABCD syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocallosal syndrome</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>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroideremia</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hermansky-Pudlak syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus 6, congenital, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocutaneous albinism type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pierson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tietz syndrome</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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 2E</a></div></span></div></div>
|
||
</div>
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<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/28211458">Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zou X,
|
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Li H,
|
||
Yang L,
|
||
Sun Z,
|
||
Yuan Z,
|
||
Li H,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Feb 17;7:33713.
|
||
doi: 10.1038/srep33713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28211458" target="_blank">28211458</a><a href="/pmc/articles/PMC5314354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypopigmentation%20of%20the%20fundus%22%5Btiab%3A~0%5D)%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 (1)</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/37845139">Ultra-widefield fundus image of an oculocutaneous albinism patient with rhegmatogenous retinal detachment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsin-Pei L,
|
||
Cherng-Ru H</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2024 Jan;47(1):103974.
|
||
Epub 2023 Oct 14
|
||
doi: 10.1016/j.jfo.2023.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37845139" target="_blank">37845139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38222445">GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu J,
|
||
Zheng Y,
|
||
Cheng L,
|
||
Sun H,
|
||
Yu X,
|
||
Gu F,
|
||
Song E</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2023;29:234-244.
|
||
Epub 2023 Nov 1
|
||
<span class="bold">PMID: </span><a href="/pubmed/38222445" target="_blank">38222445</a><a href="/pmc/articles/PMC10784212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33129801">Current and emerging treatments for albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu S,
|
||
Kuht HJ,
|
||
Moon EH,
|
||
Maconachie GDE,
|
||
Thomas MG</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2021 Mar-Apr;66(2):362-377.
|
||
Epub 2020 Oct 29
|
||
doi: 10.1016/j.survophthal.2020.10.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33129801" target="_blank">33129801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098354">The Phenotypic Spectrum of Albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruijt CC,
|
||
de Wit GC,
|
||
Bergen AA,
|
||
Florijn RJ,
|
||
Schalij-Delfos NE,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Dec;125(12):1953-1960.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1016/j.ophtha.2018.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098354" target="_blank">30098354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8981720">Vision in albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Summers CG</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1996;94:1095-155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8981720" target="_blank">8981720</a><a href="/pmc/articles/PMC1312119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypopigmentation%20of%20the%20fundus%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 (80)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37845139">Ultra-widefield fundus image of an oculocutaneous albinism patient with rhegmatogenous retinal detachment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hsin-Pei L,
|
||
Cherng-Ru H</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2024 Jan;47(1):103974.
|
||
Epub 2023 Oct 14
|
||
doi: 10.1016/j.jfo.2023.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37845139" target="_blank">37845139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31070667">Fundus Hypopigmentation and Loss of Choroidal Nevi Pigmentation Associated With Nivolumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sophie R,
|
||
Moses GM,
|
||
Hwang ES,
|
||
Kim JE</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2019 Jul 1;137(7):851-853.
|
||
doi: 10.1001/jamaophthalmol.2019.0970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31070667" target="_blank">31070667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29582825">Mud-splattered fundus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welch RJ,
|
||
Li X,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Apr;66(4):573.
|
||
doi: 10.4103/ijo.IJO_1003_17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29582825" target="_blank">29582825</a><a href="/pmc/articles/PMC5892067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29362773">Nystagmus and Platinum Hair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abalem MF,
|
||
Rao PK,
|
||
Rao RC</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2018 Jan 23;319(4):399-400.
|
||
doi: 10.1001/jama.2017.20673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29362773" target="_blank">29362773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7295126">Vitiliginous chorioretinitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gass JD</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1981 Oct;99(10):1778-87.
|
||
doi: 10.1001/archopht.1981.03930020652006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7295126" target="_blank">7295126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypopigmentation%20of%20the%20fundus%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 (152)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38825634">Vitamin A deficiency retinopathy in the setting of celiac disease and liver fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira A,
|
||
Wright T,
|
||
Weisbrod D,
|
||
Ballios BG</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2024 Oct;149(2):125-131.
|
||
Epub 2024 Jun 3
|
||
doi: 10.1007/s10633-024-09978-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38825634" target="_blank">38825634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33526528">Management of aggressive posterior retinopathy of prematurity in oculocutaneous albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panchal B,
|
||
Gulati M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 Feb 1;14(2)
|
||
doi: 10.1136/bcr-2020-238490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33526528" target="_blank">33526528</a><a href="/pmc/articles/PMC7852996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31746431">A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao X,
|
||
Liu T,
|
||
Cheng X,
|
||
Dai A,
|
||
Liu W,
|
||
Li R,
|
||
Zhang M</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2020 Jan;21(1):240-248.
|
||
Epub 2019 Nov 12
|
||
doi: 10.3892/mmr.2019.10813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31746431" target="_blank">31746431</a><a href="/pmc/articles/PMC6896309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31070667">Fundus Hypopigmentation and Loss of Choroidal Nevi Pigmentation Associated With Nivolumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sophie R,
|
||
Moses GM,
|
||
Hwang ES,
|
||
Kim JE</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2019 Jul 1;137(7):851-853.
|
||
doi: 10.1001/jamaophthalmol.2019.0970.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31070667" target="_blank">31070667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30476517">Five-Year Follow-up of Nonfibrotic Scars in the Comparison of Age-Related Macular Degeneration Treatments Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniel E,
|
||
Ying GS,
|
||
Kim BJ,
|
||
Toth CA,
|
||
Ferris F 3rd,
|
||
Martin DF,
|
||
Grunwald JE,
|
||
Jaffe GJ,
|
||
Dunaief JL,
|
||
Pan W,
|
||
Maguire MG;
|
||
Comparison of Age-Related Macular Degeneration Treatments Trials</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2019 May;126(5):743-751.
|
||
Epub 2018 Nov 23
|
||
doi: 10.1016/j.ophtha.2018.11.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30476517" target="_blank">30476517</a><a href="/pmc/articles/PMC6475610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypopigmentation%20of%20the%20fundus%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38319667">Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Proudlock FA,
|
||
McLean RJ,
|
||
Sheth V,
|
||
Ather S,
|
||
Gottlob I</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2024 Feb 1;65(2):14.
|
||
doi: 10.1167/iovs.65.2.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38319667" target="_blank">38319667</a><a href="/pmc/articles/PMC10854414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38651852">Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vukojević M,
|
||
Vukojevic N,
|
||
Vuković A,
|
||
Rupčić B,
|
||
Blažević M,
|
||
Blažević A</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2023 Dec;31(4):229-231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651852" target="_blank">38651852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098354">The Phenotypic Spectrum of Albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruijt CC,
|
||
de Wit GC,
|
||
Bergen AA,
|
||
Florijn RJ,
|
||
Schalij-Delfos NE,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Dec;125(12):1953-1960.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1016/j.ophtha.2018.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098354" target="_blank">30098354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19822914">Torpedo maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golchet PR,
|
||
Jampol LM,
|
||
Mathura JR Jr,
|
||
Daily MJ</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2010 Mar;94(3):302-6.
|
||
Epub 2009 Oct 12
|
||
doi: 10.1136/bjo.2009.162669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19822914" target="_blank">19822914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19534229">Albinism and its implications with vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirkwood BJ</span><br />
|
||
<span class="medgenPMjournal">Insight</span>
|
||
2009 Apr-Jun;34(2):13-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19534229" target="_blank">19534229</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypopigmentation%20of%20the%20fundus%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38651852">Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vukojević M,
|
||
Vukojevic N,
|
||
Vuković A,
|
||
Rupčić B,
|
||
Blažević M,
|
||
Blažević A</span><br />
|
||
<span class="medgenPMjournal">Acta Dermatovenerol Croat</span>
|
||
2023 Dec;31(4):229-231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651852" target="_blank">38651852</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36316991">Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arcot Sadagopan K,
|
||
Teng CH,
|
||
Hui G,
|
||
Lin DL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Feb;44(1):54-69.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1080/13816810.2022.2135109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36316991" target="_blank">36316991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35868890">Ocular findings in patients with vitiligo: A single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karadağ MF,
|
||
Abbas İnandırıcı M</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2022 Nov;45(9):1004-1011.
|
||
Epub 2022 Jul 20
|
||
doi: 10.1016/j.jfo.2022.04.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35868890" target="_blank">35868890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30098354">The Phenotypic Spectrum of Albinism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruijt CC,
|
||
de Wit GC,
|
||
Bergen AA,
|
||
Florijn RJ,
|
||
Schalij-Delfos NE,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Dec;125(12):1953-1960.
|
||
Epub 2018 Aug 8
|
||
doi: 10.1016/j.ophtha.2018.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30098354" target="_blank">30098354</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19822914">Torpedo maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golchet PR,
|
||
Jampol LM,
|
||
Mathura JR Jr,
|
||
Daily MJ</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2010 Mar;94(3):302-6.
|
||
Epub 2009 Oct 12
|
||
doi: 10.1136/bjo.2009.162669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19822914" target="_blank">19822914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypopigmentation%20of%20the%20fundus%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 (64)</a></div></div>
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