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<meta name="keywords" content="C1862475, abnormal retinal pigmentation, abnormality of retinal pigment epithelium, abnormality of retinal pigmentation, abnormality of rpe, abnormality of the retinal pigment epithelium, finding, retinal pigmentary anomaly, retinal pigmentation abnormalities, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=350681
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ConceptID=C1862475
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of retinal pigmentation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350681</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:">C1862475</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal retinal pigmentation; Retinal pigmentation abnormalities</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:0007703">HP:0007703</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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|
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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=C1862475[DISCUI]&test_type=Clinical" ref="ncbi_uid=350681">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350681" ref="ncbi_uid=350681">V</a></span></span><span class="TLline">Abnormality of retinal pigmentation</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/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="matched_ds">Abnormality of retinal pigmentation</span><ul><li><span class="TLline"><a href="/medgen/1643295" ref="tree=MeSH" title="MedGen record for Pigmentary retinopathy">Pigmentary retinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/323029" ref="tree=MeSH" title="MedGen record for Bone spicule pigmentation of the retina">Bone spicule pigmentation of the retina</a></span></li><li><span class="TLline"><a href="/medgen/892932" ref="tree=MeSH" title="MedGen record for Nummular pigmentation of the fundus">Nummular pigmentation of the fundus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347513" ref="tree=MeSH" title="MedGen record for Retinal pigment epithelial mottling">Retinal pigment epithelial mottling</a></span></li></ul></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_7734"><div><strong>Mucopolysaccharidosis, MPS-II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7734</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.">C0026705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with the neuronopathic phenotype, central nervous system (CNS) involvement (manifesting primarily as progressive cognitive deterioration), progressive airway disease, and cardiac disease usually results in death in the first or second decade of life. In those with the non-neuronopathic phenotype, the CNS is minimally or not affected. However, the effect of GAG accumulation on other organ systems can be severe. Survival into the early adult years with normal intelligence is common in the non-neuronopathic phenotype. Additional findings in neuronopathic and non-neuronopathic MPS II include: short stature, macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75703"><div><strong>Homocarnosinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75703</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.">C0268632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Homocarnosinosis, an elevation of homocarnosine, is a biochemical aberration of unknown significance. Only one such family has been reported (Sjaastad et al., 2018). Homocarnosinosis was previously thought to be a disorder characterized by marked elevation of homocarnosine in the cerebrospinal fluid along with spastic paraplegia, impaired intellectual development, and retinal pigmentation based on the report of one Norwegian family reported by Sjaastad et al. (1976). Sjaastad et al. (2018) performed genetic analysis postmortem in this family and identified a homozygous mutation in the SPG11 gene (610844). A reevaluation of the clinical symptoms and findings in the family correlated with spastic paraplegia-11 (SPG11; 604360). A study of other patients with SPG11 did not find elevated levels of homocarnosine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341339"><div><strong>Spondylocarpotarsal synostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341339</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.">C1848934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341339">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381360"><div><strong>Cone-rod dystrophy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381360</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.">C1854180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381360">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341100"><div><strong>Grouped pigmentation of the retina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341100</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.">C1856244</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital grouped pigmentation of the retina is a rare disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula (summary by Renardel de Lavalette et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350678"><div><strong>Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350678</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.">C1862472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463611"><div><strong>X-linked cone dysfunction syndrome with myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463611</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.">C3159311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_480111"><div><strong>Microcephaly and chorioretinopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480111</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.">C3278481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by Martin et al., 2014). Genetic Heterogeneity of Microcephaly and Chorioretinopathy See also MCCRP2 (616171), caused by mutation in the PLK4 gene (605031) on chromosome 4q27, and MCCRP3 (616335), caused by mutation in the TUBGCP4 gene (609610) on chromosome 15q15. An autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development is caused by heterozygous mutation in the KIF11 gene (148760) on chromosome 10q23. See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; 268050).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480111">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Grouped pigmentation of the retina</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Homocarnosinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_480111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly and chorioretinopathy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocarpotarsal synostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked cone dysfunction syndrome with myopia</a></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/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30451173">Current management strategy of polypoidal choroidal vasculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho CPS,
|
||
Lai TYY</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Dec;66(12):1727-1735.
|
||
doi: 10.4103/ijo.IJO_975_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30451173" target="_blank">30451173</a><a href="/pmc/articles/PMC6256896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26706012">Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruggieri M,
|
||
Praticò AD,
|
||
Evans DG</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2015 Dec;22(4):240-58.
|
||
Epub 2015 Oct 28
|
||
doi: 10.1016/j.spen.2015.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26706012" target="_blank">26706012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20retinal%20pigmentation)%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 (41)</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/37933608">Epidemiology of geographic atrophy and its precursor features of intermediate age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vujosevic S,
|
||
Alovisi C,
|
||
Chakravarthy U</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2023 Dec;101(8):839-856.
|
||
doi: 10.1111/aos.15767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37933608" target="_blank">37933608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36362249">Inherited Retinal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Yosef T</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Nov 3;23(21)
|
||
doi: 10.3390/ijms232113467.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36362249" target="_blank">36362249</a><a href="/pmc/articles/PMC9654499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35835183">Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bharti K,
|
||
den Hollander AI,
|
||
Lakkaraju A,
|
||
Sinha D,
|
||
Williams DS,
|
||
Finnemann SC,
|
||
Bowes-Rickman C,
|
||
Malek G,
|
||
D'Amore PA</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Sep;222:109170.
|
||
Epub 2022 Jul 11
|
||
doi: 10.1016/j.exer.2022.109170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35835183" target="_blank">35835183</a><a href="/pmc/articles/PMC9444976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32367006">Congenital focal abnormalities of the retina and retinal pigment epithelium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
|
||
Moore AT</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2020 Nov;34(11):1973-1988.
|
||
Epub 2020 May 4
|
||
doi: 10.1038/s41433-020-0902-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32367006" target="_blank">32367006</a><a href="/pmc/articles/PMC7784997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (886)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30672487">Hyperpigmented torpedo maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranjith PC,
|
||
Giridhar A</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Feb;67(2):270-271.
|
||
doi: 10.4103/ijo.IJO_886_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30672487" target="_blank">30672487</a><a href="/pmc/articles/PMC6376843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29995841">Pachychoroid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheung CMG,
|
||
Lee WK,
|
||
Koizumi H,
|
||
Dansingani K,
|
||
Lai TYY,
|
||
Freund KB</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 Jan;33(1):14-33.
|
||
Epub 2018 Jul 11
|
||
doi: 10.1038/s41433-018-0158-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29995841" target="_blank">29995841</a><a href="/pmc/articles/PMC6328576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30451172">Choroidal biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Aggarwal K,
|
||
Neri P,
|
||
Salvetti P,
|
||
Lembo A,
|
||
Nucci P,
|
||
Gemmy Cheung CM,
|
||
Gupta V</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Dec;66(12):1716-1726.
|
||
doi: 10.4103/ijo.IJO_893_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30451172" target="_blank">30451172</a><a href="/pmc/articles/PMC6256910" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26902562">Choroidal Macrovessel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Nucci P,
|
||
Srivastava SK</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (1276)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
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van Dijk EHC,
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Cheung CMG,
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Lai TYY,
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Koizumi H,
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Larsen M,
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Querques G,
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Yzer S,
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Lange CAK,
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Loewenstein A,
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<div class="nl"><a target="_blank" href="/pubmed/20443647">Ocular adverse effects of common psychotropic agents: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Richa S,
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2010 Jun;24(6):501-26.
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<div class="nl"><a target="_blank" href="/pubmed/16845209">Age-related macular degeneration (AMD): pathogenesis and therapy.</a></div>
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2006 May-Jun;58(3):353-63.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (318)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38154619">OCT Prognostic Biomarkers for Progression to Late Age-related Macular Degeneration: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trinh M,
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Duong A,
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Nivison-Smith L,
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2024 Jun;8(6):553-565.
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Epub 2023 Dec 27
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Lechanteur YTE,
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den Hollander AI</span><br />
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2020 Mar;40(2):140-170.
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Epub 2020 Feb 25
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<div class="nl"><a target="_blank" href="/pubmed/20159229">Uveal effusion syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Elagouz M,
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<div class="portlet_content ln"><span class="medgenPMauthor">Monnet D,
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<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/17065923" target="_blank">17065923</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11166342">Exfoliation syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ritch R,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (443)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38016808">CURRENT VIEW OF THE SPECTRUM OF PACHYCHOROID DISEASES. A REVIEW.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stepanov A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38016808" target="_blank">38016808</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36578224">Hamartomas of the Retina and Optic Disc.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mirzayev I,
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||
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<div class="nl"><a target="_blank" href="/pubmed/25158945">Pachychoroid neovasculopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pang CE,
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<span class="bold">PMID: </span><a href="/pubmed/25158945" target="_blank">25158945</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17065923">Birdshot chorioretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monnet D,
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Brézin AP</span><br />
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<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
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2006 Dec;17(6):545-50.
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<span class="bold">PMID: </span><a href="/pubmed/17065923" target="_blank">17065923</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3978071">Blue light hazard and aniridia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abadi RV,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (728)</a></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38154619">OCT Prognostic Biomarkers for Progression to Late Age-related Macular Degeneration: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinh M,
|
||
Cheung R,
|
||
Duong A,
|
||
Nivison-Smith L,
|
||
Ly A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2024 Jun;8(6):553-565.
|
||
Epub 2023 Dec 27
|
||
doi: 10.1016/j.oret.2023.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38154619" target="_blank">38154619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36973683">Ocular manifestations of vitiligo: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LeWitt T,
|
||
Tauscher R,
|
||
Obiofuma G,
|
||
Peterson J,
|
||
Haddadin R,
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||
Kundu RV</span><br />
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<span class="medgenPMjournal">BMC Ophthalmol</span>
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2023 Mar 27;23(1):120.
|
||
doi: 10.1186/s12886-023-02777-9.
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||
<span class="bold">PMID: </span><a href="/pubmed/36973683" target="_blank">36973683</a><a href="/pmc/articles/PMC10041747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478254">A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou X,
|
||
Guo Y,
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||
Liu J,
|
||
Li S,
|
||
Fan W,
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||
Lin M,
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||
Rokohl AC,
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||
Heindl LM</span><br />
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<span class="medgenPMjournal">Curr Eye Res</span>
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||
2021 Jul;46(7):913-918.
|
||
Epub 2021 Jan 22
|
||
doi: 10.1080/02713683.2020.1853779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478254" target="_blank">33478254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33040254">Clinical application of ultra-widefield fundus autofluorescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu A,
|
||
Chen C</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2021 Feb;41(2):727-741.
|
||
Epub 2020 Oct 11
|
||
doi: 10.1007/s10792-020-01609-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33040254" target="_blank">33040254</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28766279">Spectrum of pachychoroid diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akkaya S</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2018 Oct;38(5):2239-2246.
|
||
Epub 2017 Aug 1
|
||
doi: 10.1007/s10792-017-0666-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28766279" target="_blank">28766279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20retinal%20pigmentation%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 (11)</a></div></div>
|
||
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|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1862475%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (54)</a></li>
|
||
<li><a href="/gtr/tests?term=C1862475%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (54)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1862475%5bDISCUI%5d" target="_blank">See all (54)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormality%20of%20retinal%20pigmentation" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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