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<meta name="keywords" content="C1840457, finding, loss of retinal pigment epithelium, retinal pigment epithelial atrophy, 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="Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Retinal pigment epithelial atrophy (Concept Id: C1840457)
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<!--
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UID=333564
|
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ConceptID=C1840457
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal pigment epithelial atrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</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:">C1840457</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Loss of retinal pigment epithelium</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:0007722">HP:0007722</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Retinal pigment epithelial atrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/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="TLline"><a href="/medgen/48432" ref="tree=MeSH" title="MedGen record for Retinal degeneration">Retinal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/101075" ref="tree=MeSH" title="MedGen record for Retinal atrophy">Retinal atrophy</a></span><ul><li><span class="matched_ds">Retinal pigment epithelial atrophy</span><ul><li><span class="TLline"><a href="/medgen/870356" ref="tree=MeSH" title="MedGen record for Patchy atrophy of the retinal pigment epithelium">Patchy atrophy of the retinal pigment epithelium</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_11443"><div><strong>Sjögren-Larsson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11443</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.">C0037231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11443">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_238456"><div><strong>Retinitis pigmentosa 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>238456</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.">C1419610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/238456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332080"><div><strong>Retinitis pigmentosa 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332080</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.">C1835895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332080">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372159"><div><strong>Retinitis pigmentosa 31</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372159</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.">C1835923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372159">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326741"><div><strong>Wagner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326741</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.">C1840452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wagner vitreoretinopathy (WGVRP) is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336777"><div><strong>X-linked cone-rod dystrophy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336777</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.">C1844776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994). Genetic Heterogeneity of X-linked Cone-Rod Dystrophy Additional forms of X-linked cone-rod dystrophy include CORDX2 (300085), mapped to chromosome Xq27, and CORDX3 (300476), caused by mutation in the CACNA1F gene (300110) on chromosome Xp11.23. For a discussion of autosomal forms of cone-rod dystrophy, see CORD2 (120970).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340098"><div><strong>Birdshot chorioretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340098</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.">C1853959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340098">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347798"><div><strong>Ataxia-hypogonadism-choroidal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347798</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.">C1859093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400996"><div><strong>Retinitis pigmentosa 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400996</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.">C1866422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_410021"><div><strong>Isolated microphthalmia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410021</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.">C1970236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410021">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462169"><div><strong>Retinitis pigmentosa 56</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462169</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.">C3150819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity (Bandah-Rozenfeld et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462169">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462262"><div><strong>Cone-rod dystrophy 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462262</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.">C3150912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy-15 (CORD15) is characterized by onset of reduced vision in the third to fifth decades of life. Visual acuity progressively worsens, and most patients exhibit reduced color vision and central scotomas (Cohen et al., 2012; Sobolewska et al., 2023). Retinitis pigmentosa-65 (RP65) is an adult-onset form of RP, with night blindness developing in the second to fourth decades of life. In addition to constriction of visual fields, patients may experience photophobia, reduced visual acuity, and difficulties with color vision (Henderson et al., 2010; Bessette et al., 2018; Dawood et al., 2021). Retinal macular dystrophy-5 (MCDR5) is a late-onset form of macular dystrophy, with most patients noting symptoms in the fourth to sixth decades of life. Symptoms include reduced visual acuity, glare, poor contrast vision, and metamorphopsia; night blindness is uncommon (Stingl et al., 2017; Charbel Issa et al., 2019; Ba-Abbad et al., 2021). Macular atrophy is a characteristic feature in all patients, and early involvement may be observed even in patients with RP who exhibit relatively preserved visual acuity (Malechka et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970; for retinitis pigmentosa, see 268000; for retinal macular dystrophy, see 136550. Reviews Bessette et al. (2018) reviewed published reports of patients with disease-causing mutations in the CDHR1 gene. The median age of patients was 36 years, and the majority retained visual acuity of 20/70 or better in at least one eye. Most patients developed symptoms between the first and third decades of life (range, infancy through fourth decade). Night blindness was the most common presenting symptom (54%), followed by photosensitivity (39%) and decreased vision (31%). Macular atrophy was the most common fundus feature reported (96%), followed by vascular attenuation (69%) and peripheral bone spicules (54%). The authors noted significant inter- and intrafamilial phenotypic variability among patients with CDHR1 mutations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462262">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462784"><div><strong>Retinitis pigmentosa 60</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462784</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.">C3151434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483485"><div><strong>Cone-rod dystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483485</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.">C3489532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p22. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1. CORD9 (612775) is caused by mutation in the ADAM9 gene (602713) on chromosome 8p11. CORD10 (610283) is caused by mutation in the SEMA4A gene (607292) on chromosome 1q22. CORD11 (610381) is caused by mutation in the RAXL1 gene (610362) on chromosome 19p13. CORD12 (612657) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. CORD13 (608194) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. CORD14 (see 602093) is caused by mutation in the GUCA1A gene (600364) on chromosome 6p21. CORD15 (613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. CORD16 (614500) is caused by mutation in the C8ORF37 gene (614477) on chromosome 8q22. CORD18 (615374) is caused by mutation in the RAB28 gene (612994) on chromosome 4p15. CORD19 (615860) is caused by mutation in the TTLL5 gene (612268) on chromosome 14q24. CORD20 (615973) is caused by mutation in the POC1B gene (614784) on chromosome 12q21. CORD21 (616502) is caused by mutation in the DRAM2 gene (613360) on chromosome 1p13. CORD22 (619531) is caused by mutation in the TLCD3B gene (615175) on chromosome 16p11. CORD23 (see 613428) is caused by mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. CORD24 (620342) is caused by mutation in the UNC119 gene (604011) on chromosome 17q11. A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene (604392.0004) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene (604011.0001) on chromosome 17q11.2. Other mapped loci for autosomal CORD include CORD1 (600624) on chromosome 18q21.1-q21.3; CORD7 (603649) on chromosome 6q14; CORD8 (605549) on chromosome 1q12-q24; and CORD17 (615163) on chromosome 10q26. For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (304020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483485">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811458"><div><strong>Juvenile retinoschisis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811458</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.">C3714753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854716"><div><strong>Macular dystrophy, retinal, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854716</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.">C3888009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854716">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854806"><div><strong>Autosomal recessive bestrophinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854806</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.">C3888198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863679"><div><strong>Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863679</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.">C4015242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863861"><div><strong>Retinal dystrophy and obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863861</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.">C4015424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934743"><div><strong>Retinitis pigmentosa and erythrocytic microcytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934743</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.">C4310776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TRNT1 deficiency encompasses what was first thought to be two separate disorders, a severe disorder called sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its most common features. SIFD begins in infancy, and affected individuals usually do not survive past childhood. RPEM, on the other hand, is recognized in early adulthood, and the microcytosis usually does not cause any health problems. However, it has since been recognized that some individuals have a combination of features that fall between these two ends of the severity spectrum. All of these cases are now considered part of TRNT1 deficiency.\n\nEye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 deficiency. Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 deficiency can lead to vision loss.\n\nIn addition, many individuals with TRNT1 deficiency have recurrent fevers that are not caused by an infection. These fever episodes are often one of the earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy. The fever episodes are typically accompanied by poor feeding, vomiting, and diarrhea, and can lead to hospitalization. In many affected individuals, the episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5 to 7 days, although the frequency can decrease with age.\n\nMany people with TRNT1 deficiency have an immune system disorder (immunodeficiency) that can lead to recurrent bacterial infections. Repeated infections can cause life-threatening damage to internal organs. The immunodeficiency is characterized by low numbers of immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders such as bacteria and viruses and mark them for destruction. In many individuals with TRNT1 deficiency, the amount of immunoglobulins is also low (hypogammaglobulinemia).\n\nA common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which is characterized by a shortage of red blood cells (anemia). In TRNT1 deficiency, the red blood cells that are present are unusually small (erythrocytic microcytosis). In addition, developing red blood cells in the bone marrow (erythroblasts) can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment in the lab with certain dyes. These abnormal cells are called ring sideroblasts.\n\nFeatures that occur less commonly in people with TRNT1 deficiency include hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.\n\nNeurological problems are also frequent in TRNT1 deficiency. Many affected individuals have delayed development of speech and motor skills, such as sitting, standing, and walking, and some have low muscle tone (hypotonia).\n\nTRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934743">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1637738"><div><strong>Retinitis pigmentosa 81</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637738</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.">C4693443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637738">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1666864"><div><strong>Retinal macular dystrophy type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1666864</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.">C4749334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1666864">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684789"><div><strong>Retinitis pigmentosa 86</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684789</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.">C5231428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1733837"><div><strong>Retinitis pigmentosa 90</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733837</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.">C5436588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017). For a discussion of genetic heterogeneity of RP, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1733837">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794199"><div><strong>Cone-rod dystrophy 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794199</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.">C5561989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794199">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1853300"><div><strong>Macular dystrophy with or without cone dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853300</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.">C5935594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macular dystrophy with or without cone dysfunction (MDCD) is a progressive autosomal recessive disorder characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction (Bauwens et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1853300">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-hypogonadism-choroidal dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive bestrophinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Birdshot chorioretinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (26)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_410021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated microphthalmia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile retinoschisis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1853300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy with or without cone dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy, retinal, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy and obesity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1666864" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal macular dystrophy type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_238456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 31</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332080" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 56</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 60</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 81</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 86</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1733837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 90</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa and erythrocytic microcytosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sjögren-Larsson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wagner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked cone-rod dystrophy 1</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33532933">Characteristics and treatment responses of cystoid retina associated with central serous chorioretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukuyama H,
|
||
Komuku Y,
|
||
Gomi F</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2021 May;65(3):372-379.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s10384-021-00815-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33532933" target="_blank">33532933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488150">Change of retinal pigment epithelial atrophy after anti-vascular endothelial growth factor treatment in exudative age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim M,
|
||
Kim ES,
|
||
Seo KH,
|
||
Yu SY,
|
||
Kwak HW</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2016 Jun;64(6):427-33.
|
||
doi: 10.4103/0301-4738.187659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488150" target="_blank">27488150</a><a href="/pmc/articles/PMC4991167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24451923">Exacerbation of choroidal and retinal pigment epithelial atrophy after anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young M,
|
||
Chui L,
|
||
Fallah N,
|
||
Or C,
|
||
Merkur AB,
|
||
Kirker AW,
|
||
Albiani DA,
|
||
Forooghian F</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2014 Jul;34(7):1308-15.
|
||
doi: 10.1097/IAE.0000000000000081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24451923" target="_blank">24451923</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20pigment%20epithelial%20atrophy%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 (8)</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/31896542">Retinal pigment epithelial atrophy after anti-vascular endothelial growth factor therapy for polypoidal choroidal vasculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho HJ,
|
||
Kim K,
|
||
Lim SH,
|
||
Kang DH,
|
||
Kim JW</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Oct;104(10):1443-1447.
|
||
Epub 2020 Jan 2
|
||
doi: 10.1136/bjophthalmol-2019-315496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31896542" target="_blank">31896542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31222406">Retinoschisis in eyes with pachychoroid and retinal pigment epithelial atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baek J,
|
||
Lee JH,
|
||
Lee WK</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2019 Sep;257(9):1863-1871.
|
||
Epub 2019 Jun 20
|
||
doi: 10.1007/s00417-019-04388-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31222406" target="_blank">31222406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28085772">RETINAL PIGMENT EPITHELIAL ATROPHY AFTER ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INJECTIONS FOR RETINAL ANGIOMATOUS PROLIFERATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hata M,
|
||
Yamashiro K,
|
||
Oishi A,
|
||
Ooto S,
|
||
Tamura H,
|
||
Miyata M,
|
||
Ueda-Arakawa N,
|
||
Kuroda Y,
|
||
Takahashi A,
|
||
Tsujikawa A,
|
||
Yoshimura N</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2017 Nov;37(11):2069-2077.
|
||
doi: 10.1097/IAE.0000000000001457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28085772" target="_blank">28085772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27184489">Retinal pigment epithelial atrophy over polypoidal choroidal vasculopathy lesions during ranibizumab monotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikichi T,
|
||
Kitamei H,
|
||
Shioya S</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 May 16;16(1):55.
|
||
doi: 10.1186/s12886-016-0237-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27184489" target="_blank">27184489</a><a href="/pmc/articles/PMC4868043" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26432927">Retinal Pigment Epithelial Atrophy in Neovascular Age-Related Macular Degeneration After Ranibizumab Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda Y,
|
||
Yamashiro K,
|
||
Tsujikawa A,
|
||
Ooto S,
|
||
Tamura H,
|
||
Oishi A,
|
||
Nakanishi H,
|
||
Miyake M,
|
||
Yoshikawa M,
|
||
Yoshimura N</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2016 Jan;161:94-103.e1.
|
||
Epub 2015 Oct 1
|
||
doi: 10.1016/j.ajo.2015.09.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26432927" target="_blank">26432927</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20pigment%20epithelial%20atrophy%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 (56)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35563274">Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu W,
|
||
Liu S,
|
||
Li P,
|
||
Yao K</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Apr 28;23(9)
|
||
doi: 10.3390/ijms23094883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35563274" target="_blank">35563274</a><a href="/pmc/articles/PMC9101511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31222406">Retinoschisis in eyes with pachychoroid and retinal pigment epithelial atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baek J,
|
||
Lee JH,
|
||
Lee WK</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2019 Sep;257(9):1863-1871.
|
||
Epub 2019 Jun 20
|
||
doi: 10.1007/s00417-019-04388-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31222406" target="_blank">31222406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6531521">Nummular thioridazine retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kozy D,
|
||
Doft BH,
|
||
Lipkowitz J</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
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1984 Fall-Winter;4(4):253-6.
|
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<span class="bold">PMID: </span><a href="/pubmed/6531521" target="_blank">6531521</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1086060">Fundus flavimaculatus and Stargardt's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hadden OB,
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<div class="nl"><a target="_blank" href="/pubmed/1138842">X-linked retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bird AC</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20pigment%20epithelial%20atrophy%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 (71)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31896542">Retinal pigment epithelial atrophy after anti-vascular endothelial growth factor therapy for polypoidal choroidal vasculopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cho HJ,
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Kim K,
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Lim SH,
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Kang DH,
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Kim JW</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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2020 Oct;104(10):1443-1447.
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Epub 2020 Jan 2
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doi: 10.1136/bjophthalmol-2019-315496.
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<span class="bold">PMID: </span><a href="/pubmed/31896542" target="_blank">31896542</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28085772">RETINAL PIGMENT EPITHELIAL ATROPHY AFTER ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INJECTIONS FOR RETINAL ANGIOMATOUS PROLIFERATION.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hata M,
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Yamashiro K,
|
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Oishi A,
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Ooto S,
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Tamura H,
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Miyata M,
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Ueda-Arakawa N,
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Kuroda Y,
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Takahashi A,
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Tsujikawa A,
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Yoshimura N</span><br />
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<span class="medgenPMjournal">Retina</span>
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2017 Nov;37(11):2069-2077.
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doi: 10.1097/IAE.0000000000001457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28085772" target="_blank">28085772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27184489">Retinal pigment epithelial atrophy over polypoidal choroidal vasculopathy lesions during ranibizumab monotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikichi T,
|
||
Kitamei H,
|
||
Shioya S</span><br />
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<span class="medgenPMjournal">BMC Ophthalmol</span>
|
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2016 May 16;16(1):55.
|
||
doi: 10.1186/s12886-016-0237-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27184489" target="_blank">27184489</a><a href="/pmc/articles/PMC4868043" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26432927">Retinal Pigment Epithelial Atrophy in Neovascular Age-Related Macular Degeneration After Ranibizumab Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda Y,
|
||
Yamashiro K,
|
||
Tsujikawa A,
|
||
Ooto S,
|
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Tamura H,
|
||
Oishi A,
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||
Nakanishi H,
|
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Miyake M,
|
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Yoshikawa M,
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Yoshimura N</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2016 Jan;161:94-103.e1.
|
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Epub 2015 Oct 1
|
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doi: 10.1016/j.ajo.2015.09.032.
|
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<span class="bold">PMID: </span><a href="/pubmed/26432927" target="_blank">26432927</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/6531521">Nummular thioridazine retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kozy D,
|
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Doft BH,
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Lipkowitz J</span><br />
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<span class="medgenPMjournal">Retina</span>
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1984 Fall-Winter;4(4):253-6.
|
||
doi: 10.1097/00006982-198400440-00008.
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||
<span class="bold">PMID: </span><a href="/pubmed/6531521" target="_blank">6531521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20pigment%20epithelial%20atrophy%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36727798">LONG-TERM PROGNOSIS OF CHOROIDAL NEOVASCULARIZATION COMPLICATING ANGIOID STREAKS.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rohart C,
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Le HM,
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Estrada-Walker J,
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Giocanti-Auregan A,
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Cohen SY</span><br />
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<span class="medgenPMjournal">Retina</span>
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2023 Jun 1;43(6):882-887.
|
||
doi: 10.1097/IAE.0000000000003746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36727798" target="_blank">36727798</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31896542">Retinal pigment epithelial atrophy after anti-vascular endothelial growth factor therapy for polypoidal choroidal vasculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho HJ,
|
||
Kim K,
|
||
Lim SH,
|
||
Kang DH,
|
||
Kim JW</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Oct;104(10):1443-1447.
|
||
Epub 2020 Jan 2
|
||
doi: 10.1136/bjophthalmol-2019-315496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31896542" target="_blank">31896542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31222406">Retinoschisis in eyes with pachychoroid and retinal pigment epithelial atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baek J,
|
||
Lee JH,
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Lee WK</span><br />
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<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
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2019 Sep;257(9):1863-1871.
|
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Epub 2019 Jun 20
|
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doi: 10.1007/s00417-019-04388-x.
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<span class="bold">PMID: </span><a href="/pubmed/31222406" target="_blank">31222406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28085772">RETINAL PIGMENT EPITHELIAL ATROPHY AFTER ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INJECTIONS FOR RETINAL ANGIOMATOUS PROLIFERATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hata M,
|
||
Yamashiro K,
|
||
Oishi A,
|
||
Ooto S,
|
||
Tamura H,
|
||
Miyata M,
|
||
Ueda-Arakawa N,
|
||
Kuroda Y,
|
||
Takahashi A,
|
||
Tsujikawa A,
|
||
Yoshimura N</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2017 Nov;37(11):2069-2077.
|
||
doi: 10.1097/IAE.0000000000001457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28085772" target="_blank">28085772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27184489">Retinal pigment epithelial atrophy over polypoidal choroidal vasculopathy lesions during ranibizumab monotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikichi T,
|
||
Kitamei H,
|
||
Shioya S</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 May 16;16(1):55.
|
||
doi: 10.1186/s12886-016-0237-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27184489" target="_blank">27184489</a><a href="/pmc/articles/PMC4868043" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20pigment%20epithelial%20atrophy%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31222406">Retinoschisis in eyes with pachychoroid and retinal pigment epithelial atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baek J,
|
||
Lee JH,
|
||
Lee WK</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2019 Sep;257(9):1863-1871.
|
||
Epub 2019 Jun 20
|
||
doi: 10.1007/s00417-019-04388-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31222406" target="_blank">31222406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28691937">MACULAR ATROPHY AND MACULAR MORPHOLOGY IN AFLIBERCEPT-TREATED NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuroda Y,
|
||
Yamashiro K,
|
||
Ooto S,
|
||
Tamura H,
|
||
Oishi A,
|
||
Nakanishi H,
|
||
Miyata M,
|
||
Hata M,
|
||
Takahashi A,
|
||
Wakazono T,
|
||
Yoshimura N,
|
||
Tsujikawa A</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2018 Sep;38(9):1743-1750.
|
||
doi: 10.1097/IAE.0000000000001765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28691937" target="_blank">28691937</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488150">Change of retinal pigment epithelial atrophy after anti-vascular endothelial growth factor treatment in exudative age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim M,
|
||
Kim ES,
|
||
Seo KH,
|
||
Yu SY,
|
||
Kwak HW</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2016 Jun;64(6):427-33.
|
||
doi: 10.4103/0301-4738.187659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488150" target="_blank">27488150</a><a href="/pmc/articles/PMC4991167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27184489">Retinal pigment epithelial atrophy over polypoidal choroidal vasculopathy lesions during ranibizumab monotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hikichi T,
|
||
Kitamei H,
|
||
Shioya S</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2016 May 16;16(1):55.
|
||
doi: 10.1186/s12886-016-0237-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27184489" target="_blank">27184489</a><a href="/pmc/articles/PMC4868043" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22464366">Progression of retinal pigment epithelial atrophy in stargardt disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McBain VA,
|
||
Townend J,
|
||
Lois N</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2012 Jul;154(1):146-54.
|
||
Epub 2012 Mar 30
|
||
doi: 10.1016/j.ajo.2012.01.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22464366" target="_blank">22464366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20pigment%20epithelial%20atrophy%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 (39)</a></div></div>
|
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|
||
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20pigment%20epithelial%20atrophy%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Retinal%20pigment%20epithelial%20atrophy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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