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<!--
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UID=41933
|
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ConceptID=C0015398
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary eye diseases</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41933</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.">C0015398</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
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<td>Eye Disease, Hereditary; Eye Diseases, Hereditary; Hereditary Eye Disease; Hereditary Eye Diseases</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>
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<div class="portlet_content ln">Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from <a title="Medical Subject Headings" href="http://www.nlm.nih.gov/pubs/factsheets/mesh.html" class="defSource" target="_blank">MeSH</a>]</div>
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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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class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hereditary eye diseases</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="matched_ds">Hereditary eye diseases</span><ul><li><span class="TLline"><a href="/medgen/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/193" ref="tree=MeSH" title="MedGen record for Aleutian disease">Aleutian disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</a></span><ul><li><span class="TLline"><a href="/medgen/337149" ref="tree=MeSH" title="MedGen record for Ocular albinism with late-onset sensorineural deafness">Ocular albinism with late-onset 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href="/medgen/419752" ref="tree=MeSH" title="MedGen record for Aniridia - intellectual disability syndrome">Aniridia - intellectual disability syndrome</a></span></li><li><span class="TLline"><a href="/medgen/400149" ref="tree=MeSH" title="MedGen record for Aniridia-absent patella syndrome">Aniridia-absent patella syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929405" ref="tree=MeSH" title="MedGen record for Aniridia-ptosis-intellectual disability-familial obesity syndrome">Aniridia-ptosis-intellectual disability-familial obesity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/347952" ref="tree=MeSH" title="MedGen record for Aniridia-renal agenesis-psychomotor retardation syndrome">Aniridia-renal agenesis-psychomotor retardation syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96563" ref="tree=MeSH" title="MedGen record for Gillespie syndrome">Gillespie syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1046" ref="tree=MeSH" title="MedGen record for Congenital ocular coloboma">Congenital ocular coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/75567" ref="tree=MeSH" title="MedGen record for CHARGE syndrome">CHARGE syndrome</a></span></li><li><span class="TLline"><a href="/medgen/66820" ref="tree=MeSH" title="MedGen record for Chorioretinal coloboma">Chorioretinal coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/1641158" ref="tree=MeSH" title="MedGen record for Inferior chorioretinal coloboma">Inferior chorioretinal coloboma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892599" ref="tree=MeSH" title="MedGen record for Ciliary body coloboma">Ciliary body coloboma</a></span></li><li><span class="TLline"><a href="/medgen/57832" ref="tree=MeSH" title="MedGen record for Coloboma of optic nerve">Coloboma of optic nerve</a></span><ul><li><span class="TLline"><a href="/medgen/767635" ref="tree=MeSH" title="MedGen record for Morning glory syndrome">Morning glory syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/116097" ref="tree=MeSH" title="MedGen record for Iris coloboma">Iris coloboma</a></span></li><li><span class="TLline"><a href="/medgen/761889" ref="tree=MeSH" title="MedGen record for Retinal coloboma">Retinal coloboma</a></span><ul><li><span class="TLline"><a href="/medgen/1644340" ref="tree=MeSH" title="MedGen record for Inferior retinal coloboma">Inferior retinal coloboma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66078" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome">Treacher Collins syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/75554" ref="tree=MeSH" title="MedGen record for Craniofacial microsomia">Craniofacial microsomia</a></span></li><li><span class="TLline"><a href="/medgen/994681" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 1">Treacher Collins syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462333" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 2">Treacher Collins syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/340868" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 3">Treacher Collins syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1712280" ref="tree=MeSH" title="MedGen record for Treacher Collins syndrome 4">Treacher Collins syndrome 4</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/4413" ref="tree=MeSH" title="MedGen record for Duane retraction syndrome">Duane retraction syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/196721" ref="tree=MeSH" title="MedGen record for Duane retraction syndrome 2">Duane retraction syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/201329" ref="tree=MeSH" title="MedGen record for Duane syndrome type 1">Duane syndrome type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/573220" ref="tree=MeSH" title="MedGen record for Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/3618" ref="tree=MeSH" title="MedGen record for Hereditary corneal dystrophy">Hereditary corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/4800" ref="tree=MeSH" title="MedGen record for Fuchs endothelial dystrophy">Fuchs endothelial dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/83283" ref="tree=MeSH" title="MedGen record for Meesmann corneal dystrophy">Meesmann corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1684668" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 1">Corneal dystrophy, Meesmann, 1</a></span></li><li><span class="TLline"><a href="/medgen/1684798" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 2">Corneal dystrophy, Meesmann, 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/45207" ref="tree=MeSH" title="MedGen record for Hereditary optic atrophy">Hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/137902" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy classic form">Autosomal dominant optic atrophy classic form</a></span></li><li><span class="TLline"><a href="/medgen/1647918" ref="tree=MeSH" title="MedGen record for Dominant hereditary optic atrophy">Dominant hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/895207" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy and peripheral neuropathy">Autosomal dominant optic atrophy and peripheral neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/976364" ref="tree=MeSH" title="MedGen record for Autosomal dominant optic atrophy plus syndrome">Autosomal dominant optic atrophy plus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/371657" ref="tree=MeSH" title="MedGen record for Optic atrophy 3">Optic atrophy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/182973" ref="tree=MeSH" title="MedGen record for Leber optic atrophy">Leber optic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1641635" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 1">Wolfram syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/347604" ref="tree=MeSH" title="MedGen record for Wolfram syndrome 2">Wolfram syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/325511" ref="tree=MeSH" title="MedGen record for Wolfram syndrome, mitochondrial form">Wolfram syndrome, mitochondrial form</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/137922" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis">Leber congenital amaurosis</a></span><ul><li><span class="TLline"><a href="/medgen/419026" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 1">Leber congenital amaurosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348473" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 2">Leber congenital amaurosis 2</a></span></li><li><span class="TLline"><a href="/medgen/346964" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 3">Leber congenital amaurosis 3</a></span></li><li><span class="TLline"><a href="/medgen/346808" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 4">Leber congenital amaurosis 4</a></span></li><li><span class="TLline"><a href="/medgen/388031" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 5">Leber congenital amaurosis 5</a></span></li><li><span class="TLline"><a href="/medgen/344245" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 6">Leber congenital amaurosis 6</a></span></li><li><span class="TLline"><a href="/medgen/462542" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 7">Leber congenital amaurosis 7</a></span></li><li><span class="TLline"><a href="/medgen/462552" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 8">Leber congenital amaurosis 8</a></span></li><li><span class="TLline"><a href="/medgen/325277" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 9">Leber congenital amaurosis 9</a></span></li><li><span class="TLline"><a href="/medgen/346672" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 10">Leber congenital amaurosis 10</a></span></li><li><span class="TLline"><a href="/medgen/326698" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 11">Leber congenital amaurosis 11</a></span></li><li><span class="TLline"><a href="/medgen/347535" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 12">Leber congenital amaurosis 12</a></span></li><li><span class="TLline"><a href="/medgen/382544" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 13">Leber congenital amaurosis 13</a></span></li><li><span class="TLline"><a href="/medgen/442375" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 14">Leber congenital amaurosis 14</a></span></li><li><span class="TLline"><a href="/medgen/462556" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 15">Leber congenital amaurosis 15</a></span></li><li><span class="TLline"><a href="/medgen/481692" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 16">Leber congenital amaurosis 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137901" ref="tree=MeSH" title="MedGen record for Optic nerve hypoplasia">Optic nerve hypoplasia</a></span><ul><li><span class="TLline"><a href="/medgen/322281" ref="tree=MeSH" title="MedGen record for Isolated optic nerve hypoplasia">Isolated optic nerve hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/90926" ref="tree=MeSH" title="MedGen record for Septo-optic dysplasia sequence">Septo-optic dysplasia sequence</a></span></li><li><span class="TLline"><a href="/medgen/768708" ref="tree=MeSH" title="MedGen record for Unilateral Optic Nerve Hypoplasia">Unilateral Optic Nerve Hypoplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6695" ref="tree=MeSH" title="MedGen record for Ornithine aminotransferase deficiency">Ornithine aminotransferase deficiency</a></span></li><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/7434" ref="tree=MeSH" title="MedGen record for Macular degeneration">Macular degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/116576" ref="tree=MeSH" title="MedGen record for Age-related macular degeneration">Age-related macular degeneration</a></span></li><li><span class="TLline"><a href="/medgen/472900" ref="tree=MeSH" title="MedGen record for Cystoid macular degeneration">Cystoid macular degeneration</a></span></li><li><span class="TLline"><a href="/medgen/1370619" ref="tree=MeSH" title="MedGen record for Foveal degeneration">Foveal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/323488" ref="tree=MeSH" title="MedGen record for Geographic atrophy">Geographic atrophy</a></span></li><li><span class="TLline"><a href="/medgen/75732" ref="tree=MeSH" title="MedGen record for Macular edema">Macular edema</a></span></li><li><span class="TLline"><a href="/medgen/75734" ref="tree=MeSH" title="MedGen record for Stargardt disease">Stargardt disease</a></span></li><li><span class="TLline"><a href="/medgen/137920" ref="tree=MeSH" title="MedGen record for Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/389185" ref="tree=MeSH" title="MedGen record for Wet macular degeneration">Wet macular degeneration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/232938" ref="tree=MeSH" title="MedGen record for Peripheral retinal degeneration">Peripheral retinal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/102321" ref="tree=MeSH" title="MedGen record for Lattice retinal degeneration">Lattice retinal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/374208" ref="tree=MeSH" title="MedGen record for Peripheral cystoid retinal degeneration">Peripheral cystoid retinal degeneration</a></span></li></ul></li><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="TLline"><a href="/medgen/140841" ref="tree=MeSH" title="MedGen record for Macular atrophy">Macular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/765930" ref="tree=MeSH" title="MedGen record for Peripheral retinal atrophy">Peripheral retinal atrophy</a></span></li><li><span class="TLline"><a href="/medgen/333564" ref="tree=MeSH" title="MedGen record for Retinal pigment epithelial atrophy">Retinal pigment epithelial atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20549" ref="tree=MeSH" title="MedGen record for Retinal drusen">Retinal drusen</a></span></li><li><span class="TLline"><a href="/medgen/208903" ref="tree=MeSH" title="MedGen record for Retinal dystrophy">Retinal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/346626" ref="tree=MeSH" title="MedGen record for Chorioretinal dystrophy">Chorioretinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/891534" ref="tree=MeSH" title="MedGen record for Cone-rod dystrophy 21">Cone-rod dystrophy 21</a></span></li><li><span class="TLline"><a href="/medgen/1636841" ref="tree=MeSH" title="MedGen record for Genetic Macular Dystrophy">Genetic Macular Dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/57825" ref="tree=MeSH" title="MedGen record for Hereditary retinal dystrophy">Hereditary retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/870319" ref="tree=MeSH" title="MedGen record for Pattern dystrophy of the retina">Pattern dystrophy of the retina</a></span></li><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span></li><li><span class="TLline"><a href="/medgen/1632921" ref="tree=MeSH" title="MedGen record for Rod-cone dystrophy">Rod-cone dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867201" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa inversa">Retinitis pigmentosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/56292" ref="tree=MeSH" title="MedGen record for Retinoschisis">Retinoschisis</a></span><ul><li><span class="TLline"><a href="/medgen/436160" ref="tree=MeSH" title="MedGen record for Foveoschisis">Foveoschisis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/48433" ref="tree=MeSH" title="MedGen record for Retinal dysplasia">Retinal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/20552" ref="tree=MeSH" title="MedGen record for Retinoblastoma">Retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/163163" ref="tree=MeSH" title="MedGen record for bilateral retinoblastoma">bilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/83171" ref="tree=MeSH" title="MedGen record for Differentiated Retinoblastoma">Differentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/226854" ref="tree=MeSH" title="MedGen record for Diffuse Retinoblastoma">Diffuse Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/75861" ref="tree=MeSH" title="MedGen record for Extraocular retinoblastoma">Extraocular retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/230837" ref="tree=MeSH" title="MedGen record for Pediatric extraocular retinoblastoma">Pediatric extraocular retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/78874" ref="tree=MeSH" title="MedGen record for Intraocular retinoblastoma">Intraocular retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/230836" ref="tree=MeSH" title="MedGen record for Pediatric intraocular retinoblastoma">Pediatric intraocular retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842255" ref="tree=MeSH" title="MedGen record for Non-hereditary retinoblastoma">Non-hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/82965" ref="tree=MeSH" title="MedGen record for Recurrent Retinoblastoma">Recurrent Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1646804" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Stage">Retinoblastoma by AJCC v8 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1635691" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Clinical Stage">Retinoblastoma by AJCC v8 Clinical Stage</a></span></li><li><span class="TLline"><a href="/medgen/1638974" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Pathologic Stage">Retinoblastoma by AJCC v8 Pathologic Stage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155870" ref="tree=MeSH" title="MedGen record for Sporadic Retinoblastoma">Sporadic Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/392856" ref="tree=MeSH" title="MedGen record for Trilateral retinoblastoma">Trilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/137788" ref="tree=MeSH" title="MedGen record for Undifferentiated Retinoblastoma">Undifferentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/208929" ref="tree=MeSH" title="MedGen record for Unilateral retinoblastoma">Unilateral retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83281" ref="tree=MeSH" title="MedGen record for Thyroid eye disease">Thyroid eye disease</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/82705" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome">Weill-Marchesani syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/416383" ref="tree=MeSH" title="MedGen record for Weill-Marchesani 4 syndrome, recessive">Weill-Marchesani 4 syndrome, recessive</a></span></li><li><span class="TLline"><a href="/medgen/1637058" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 1">Weill-Marchesani syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/766699" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 3">Weill-Marchesani syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358388" ref="tree=MeSH" title="MedGen record for Weill-Marchesani syndrome 2, dominant">Weill-Marchesani syndrome 2, dominant</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/39644342">Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Díazceballos-García AL,
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Matsui R,
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Chairez Miranda MG,
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Rosales Padrón JF,
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Graue-Wiechers F,
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Zenteno JC</span><br />
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<span class="medgenPMjournal">Int Ophthalmol</span>
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2024 Dec 7;45(1):1.
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doi: 10.1007/s10792-024-03260-0.
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<span class="bold">PMID: </span><a href="/pubmed/39644342" target="_blank">39644342</a><a href="/pmc/articles/PMC11625059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33884488">Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xu X,
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Wang P,
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Jia X,
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Sun W,
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Li S,
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Xiao X,
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Hejtmancik JF,
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Zhang Q</span><br />
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<span class="medgenPMjournal">Mol Genet Genomics</span>
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2021 Jul;296(4):845-862.
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Epub 2021 Apr 21
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doi: 10.1007/s00438-021-01783-0.
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<span class="bold">PMID: </span><a href="/pubmed/33884488" target="_blank">33884488</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20eye%20diseases%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 (2)</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/39884496">Congenital retinal folds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong L,
|
||
Dhallan A,
|
||
Lueder GT,
|
||
Reynolds MM</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2025 Feb;29(1):104118.
|
||
Epub 2025 Jan 28
|
||
doi: 10.1016/j.jaapos.2025.104118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39884496" target="_blank">39884496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35741851">Dominant Stickler Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soh Z,
|
||
Richards AJ,
|
||
McNinch A,
|
||
Alexander P,
|
||
Martin H,
|
||
Snead MP</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 18;13(6)
|
||
doi: 10.3390/genes13061089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35741851" target="_blank">35741851</a><a href="/pmc/articles/PMC9222743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28972279">Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifi M,
|
||
Walter MA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jun;93(6):1123-1130.
|
||
Epub 2018 Jan 25
|
||
doi: 10.1111/cge.13148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28972279" target="_blank">28972279</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28559085">Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stone EM,
|
||
Andorf JL,
|
||
Whitmore SS,
|
||
DeLuca AP,
|
||
Giacalone JC,
|
||
Streb LM,
|
||
Braun TA,
|
||
Mullins RF,
|
||
Scheetz TE,
|
||
Sheffield VC,
|
||
Tucker BA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2017 Sep;124(9):1314-1331.
|
||
Epub 2017 May 27
|
||
doi: 10.1016/j.ophtha.2017.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28559085" target="_blank">28559085</a><a href="/pmc/articles/PMC5565704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20687508">Cerebro-oculo-facio-skeletal syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suzumura H,
|
||
Arisaka O</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2010;685:210-4.
|
||
doi: 10.1007/978-1-4419-6448-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20687508" target="_blank">20687508</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20eye%20diseases%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 (478)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39884496">Congenital retinal folds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong L,
|
||
Dhallan A,
|
||
Lueder GT,
|
||
Reynolds MM</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2025 Feb;29(1):104118.
|
||
Epub 2025 Jan 28
|
||
doi: 10.1016/j.jaapos.2025.104118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39884496" target="_blank">39884496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34486478">Congenital alacrima.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Z,
|
||
Allen RC</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2022 Apr;41(2):162-169.
|
||
Epub 2021 Sep 5
|
||
doi: 10.1080/01676830.2021.1974057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34486478" target="_blank">34486478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31560925">Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chrystal PW,
|
||
Walter MA</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2019 Dec;189:107815.
|
||
Epub 2019 Sep 24
|
||
doi: 10.1016/j.exer.2019.107815.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31560925" target="_blank">31560925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28972279">Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifi M,
|
||
Walter MA</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jun;93(6):1123-1130.
|
||
Epub 2018 Jan 25
|
||
doi: 10.1111/cge.13148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28972279" target="_blank">28972279</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28465303">Epidemiology of blindness in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solebo AL,
|
||
Teoh L,
|
||
Rahi J</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2017 Sep;102(9):853-857.
|
||
Epub 2017 May 2
|
||
doi: 10.1136/archdischild-2016-310532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28465303" target="_blank">28465303</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20eye%20diseases%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 (878)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34406178">Diabetes risk reduction diet and the risk of breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turati F,
|
||
Bravi F,
|
||
Rossi M,
|
||
Serraino D,
|
||
Mattioli V,
|
||
Augustin L,
|
||
Crispo A,
|
||
Giacosa A,
|
||
Negri E,
|
||
La Vecchia C</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer Prev</span>
|
||
2022 Jul 1;31(4):339-345.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1097/CEJ.0000000000000709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34406178" target="_blank">34406178</a><a href="/pmc/articles/PMC9889193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30188410">Intracranial hypertension: a current review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan CO,
|
||
Aylward SC</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2018 Dec;30(6):764-774.
|
||
doi: 10.1097/MOP.0000000000000689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30188410" target="_blank">30188410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24565273">Rhegmatogenous retinal detachment--an ophthalmologic emergency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feltgen N,
|
||
Walter P</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2014 Jan 6;111(1-2):12-21; quiz 22.
|
||
doi: 10.3238/arztebl.2014.0012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24565273" target="_blank">24565273</a><a href="/pmc/articles/PMC3948016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23360161">The immunological basis of degenerative diseases of the eye.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nussenblatt RB,
|
||
Liu B,
|
||
Wei L,
|
||
Sen HN</span><br />
|
||
<span class="medgenPMjournal">Int Rev Immunol</span>
|
||
2013 Feb;32(1):97-112.
|
||
doi: 10.3109/08830185.2012.740536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23360161" target="_blank">23360161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16374327">Saving cone cells in hereditary rod diseases: a possible role for rod-derived cone viability factor (RdCVF) therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahel JA</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2005 Dec;25(8 Suppl):S38-S39.
|
||
doi: 10.1097/00006982-200512001-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16374327" target="_blank">16374327</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20eye%20diseases%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 (109)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30188410">Intracranial hypertension: a current review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan CO,
|
||
Aylward SC</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2018 Dec;30(6):764-774.
|
||
doi: 10.1097/MOP.0000000000000689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30188410" target="_blank">30188410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26913929">Retinal Rings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipscomb PM,
|
||
Reddy AK</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2016 Apr;134(4):459-60.
|
||
doi: 10.1001/jamaophthalmol.2015.3646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26913929" target="_blank">26913929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
||
Halley DJ,
|
||
Smit LS,
|
||
Lequin MH,
|
||
Cobben JM,
|
||
de Coo R,
|
||
van Harssel J,
|
||
Sallevelt S,
|
||
Woldringh G,
|
||
van der Knaap MS,
|
||
de Vries LS,
|
||
Mancini GM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2015 Nov;17(11):843-53.
|
||
Epub 2015 Feb 26
|
||
doi: 10.1038/gim.2014.210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23845030">Genetic testing for inherited ocular disease: delivering on the promise at last?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gillespie RL,
|
||
Hall G,
|
||
Black GC</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2014 Jan-Feb;42(1):65-77.
|
||
Epub 2013 Aug 21
|
||
doi: 10.1111/ceo.12159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23845030" target="_blank">23845030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20378821">Genotype-phenotype correlation in X-linked Alport syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekheirnia MR,
|
||
Reed B,
|
||
Gregory MC,
|
||
McFann K,
|
||
Shamshirsaz AA,
|
||
Masoumi A,
|
||
Schrier RW</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2010 May;21(5):876-83.
|
||
Epub 2010 Apr 8
|
||
doi: 10.1681/ASN.2009070784.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20378821" target="_blank">20378821</a><a href="/pmc/articles/PMC2865738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20eye%20diseases%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 (284)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39333506">Cryo-EM structure of human class C orphan GPCR GPR179 involved in visual processing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yun Y,
|
||
Jeong H,
|
||
Laboute T,
|
||
Martemyanov KA,
|
||
Lee HH</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Sep 27;15(1):8299.
|
||
doi: 10.1038/s41467-024-52584-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39333506" target="_blank">39333506</a><a href="/pmc/articles/PMC11437087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34313156">Pleiotropy of a Stickler syndrome genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baiyasi A,
|
||
Barbosa J,
|
||
Parendo A,
|
||
Lin X</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2022 Nov;32(6):NP10-NP12.
|
||
Epub 2021 Jul 27
|
||
doi: 10.1177/11206721211035611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34313156" target="_blank">34313156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30188410">Intracranial hypertension: a current review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan CO,
|
||
Aylward SC</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2018 Dec;30(6):764-774.
|
||
doi: 10.1097/MOP.0000000000000689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30188410" target="_blank">30188410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25719457">The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meuwissen ME,
|
||
Halley DJ,
|
||
Smit LS,
|
||
Lequin MH,
|
||
Cobben JM,
|
||
de Coo R,
|
||
van Harssel J,
|
||
Sallevelt S,
|
||
Woldringh G,
|
||
van der Knaap MS,
|
||
de Vries LS,
|
||
Mancini GM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2015 Nov;17(11):843-53.
|
||
Epub 2015 Feb 26
|
||
doi: 10.1038/gim.2014.210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25719457" target="_blank">25719457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10160422">Ocular manifestations of genetic and development diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diamond GR</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1995 Dec;6(6):70-6.
|
||
doi: 10.1097/00055735-199512000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10160422" target="_blank">10160422</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20eye%20diseases%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 (350)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35830446">Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang X,
|
||
Chen J,
|
||
Xiong H,
|
||
Yu X</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(7):e0271326.
|
||
Epub 2022 Jul 13
|
||
doi: 10.1371/journal.pone.0271326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35830446" target="_blank">35830446</a><a href="/pmc/articles/PMC9278778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
|
||
Wang X,
|
||
Chavis P,
|
||
Kuriyan AE,
|
||
Abariga SA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jun 18;6(6):CD008428.
|
||
doi: 10.1002/14651858.CD008428.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/32039712">Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang DD,
|
||
Gao FJ,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Xu P,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Feb 10;21(1):27.
|
||
doi: 10.1186/s12881-020-0963-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/32039712" target="_blank">32039712</a><a href="/pmc/articles/PMC7008542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24357340">Vitamin A and fish oils for retinitis pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rayapudi S,
|
||
Schwartz SG,
|
||
Wang X,
|
||
Chavis P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Dec 19;2013(12):CD008428.
|
||
doi: 10.1002/14651858.CD008428.pub2.
|
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<span class="bold">PMID: </span><a href="/pubmed/24357340" target="_blank">24357340</a><a href="/pmc/articles/PMC4259575" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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