All individuals with variants in gene RPE65

1044 entries on 11 pages. Showing entries 1 - 100.
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00001786 - - - - - (United States) - - 0 - - RP - 1 1 Feng Wang
00024941 - - - M yes India Indian - 0 - - LCA2 - 2 1 Kannabiran C
00033108 - - - M - - - - 0 - - retinal disease - 2 1 Kornelia Neveling
00033129 - - - M - - - - 0 - - retinal disease onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal 2 1 Kornelia Neveling
00033359 - PubMed: Abu-Safieh-2013 - - - Saudi Arabia Arab - 0 - - retinal disease - 1 1 Leen Abu Safieh
00033364 - PubMed: Abu-Safieh-2013 - - - Saudi Arabia Arab - 0 - - LCA - 1 1 Leen Abu Safieh
00033680 - - - - yes India - - 0 - - LCA - 2 1 Chitra Kannabiran
00033720 - - - F no India India, south - 0 - - LCA - 2 1 Soumittra Nagasamy
00033721 - - - F yes India India, south - 0 - - LCA - 1 1 Soumittra Nagasamy
00038064 - PubMed: Vallespin 2007 - ? ? Spain Spanish - 0 - - LCA ? 1 5 Frans Cremers
00052411 MIE#0034 (Case 1) PubMed: Katagiri 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Japan Japanese - 0 - - LCA Leber congenital amaurosis; nystagmus, loss of vision and non-recordable ERG 3 1 Muhammad Ajmal
00052412 JU#0756 (Case 2) PubMed: Katagiri 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Japan Japan - 0 - - LCA Leber congenital amaurosis; night blindness, severe retinal degeneration and non-recordable ERG 1 1 Muhammad Ajmal
00052413 - PubMed: Mo 2014 2-generation family, 1 affected F no China Chinese - 0 - - RD retinal dystrophy, early-onset, severe; mildly attenuated retinal vessels, some whitish dots, and numerous grayish deposits in the mid-peripheral retina 2 1 Muhammad Ajmal
00052414 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052415 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052416 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052417 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052418 - PubMed: Ripamonti 2014 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052419 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052420 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052421 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052422 - PubMed: Ripamonti 2014 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052423 - PubMed: Koenekoop 2014 - M ? India Indian - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052424 - PubMed: Koenekoop 2014 - F ? China Chinese - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052425 - PubMed: Koenekoop 2014 - F ? China Chinese - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052426 - PubMed: Koenekoop 2014 - F ? Syria Syrian - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052427 - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052428 - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052429 - PubMed: Koenekoop 2014 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052430 Pat7-1 PubMed: Khan 2014 - M ? Saudi Arabia - - 0 - - LCA Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG 1 2 Muhammad Ajmal
00052431 Pat7-2 PubMed: Khan 2014 - M ? Saudi Arabia - - 0 - - LCA Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG 1 1 Muhammad Ajmal
00052432 Pat8 PubMed: Khan 2014 - M ? Saudi Arabia - - 0 - - LCA Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG 2 1 Muhammad Ajmal
00052433 - PubMed: Jakobsson 2014 - M yes Yemen Arab - 0 - - LCA Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG 1 1 Muhammad Ajmal
00052434 - PubMed: Jakobsson 2014 - M yes Yemen Arab - 0 - - LCA Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG 1 1 Muhammad Ajmal
00052435 - PubMed: Jakobsson 2014 - F yes Yemen Arab - 0 - - LCA Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG 1 1 Muhammad Ajmal
00052436 - PubMed: Verma 2013 - M no India South Indian - 0 - - LCA Leber congenital amaurosis; asymmetrical nystagmus, vascular attenuation, white pigmentation in the mid periphery 1 1 Muhammad Ajmal
00052437 - PubMed: Verma 2013 - F yes India South Indian - 0 - - LCA Leber congenital amaurosis; asymmetrical pendular nystagmus, night blindness, vascular attenuation, disc pallor 1 1 Muhammad Ajmal
00052438 - PubMed: Verma 2013 - M yes India South Indian - 0 - - LCA Leber congenital amaurosis; nystagmus absent, night blindness, normal disc, mild vessel attenuation, PE mottling, white dot in the periphery 1 1 Muhammad Ajmal
00052439 - PubMed: Verma 2013 - F yes India South Indian - 0 - - LCA Leber congenital amaurosis; latent jerky nystagmus, alternate exotropia, RPE mottling, vascular attenuation, salt & pepper pigmentation 1 1 Muhammad Ajmal
00052440 - PubMed: Verma 2013 - M no India South Indian - 0 - - LCA Leber congenital amaurosis; asymmetrical pendular nystagmus, photophobia, night blindness, normal fundus 1 1 Muhammad Ajmal
00052441 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor 1 1 Muhammad Ajmal
00052442 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor 1 1 Muhammad Ajmal
00052443 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor 1 1 Muhammad Ajmal
00052444 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - 0 - - RD retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor 1 1 Muhammad Ajmal
00052445 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected 1 1 Muhammad Ajmal
00052446 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected 1 1 Muhammad Ajmal
00052447 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected 1 1 Muhammad Ajmal
00052448 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - CORD cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected 1 1 Muhammad Ajmal
00052449 - PubMed: Kabir 2013 - M yes Pakistan Pakistani - 0 - - RD retinal dystrophy 1 1 Muhammad Ajmal
00052450 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - RD retinal dystrophy 1 1 Muhammad Ajmal
00052451 - PubMed: Kabir 2013 - F yes Pakistan Pakistani - 0 - - RD retinal dystrophy 1 1 Muhammad Ajmal
00052452 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052453 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052454 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052455 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052456 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052457 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052458 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052459 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052460 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052461 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052462 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052463 - PubMed: Jacobson 2012 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052464 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052465 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052466 - PubMed: Jacobson 2012 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052467 - PubMed: Li 2011 - M no China Han Chinese - 0 - - LCA Leber congenital amaurosis; poor vision, nystagmus, attenuated vessels, pigment deposit 1 1 Muhammad Ajmal
00052468 - PubMed: Li 2011 - M no China Han Chinese - 0 - - LCA Leber congenital amaurosis; poor vision, photophobia, nystagmus, extinguished rod and cone ERG 1 1 Muhammad Ajmal
00052469 ?/F05-II1 PubMed: Li 2011, PubMed: Li 2029 - M no China Han Chinese - 0 - - LCA Leber congenital amaurosis; poor vision, night blindness, attenuated vessels, carpet-like retinal degeneration, extinguished rod and cone ERG 2 1 Muhammad Ajmal
00052470 - PubMed: Schatz 2011 - F no ? (unknown) ? - 0 - - ? fundus albipunctatus, night blindness since childhood 2 1 Muhammad Ajmal
00052471 - PubMed: Coppieters 2010 - F no Turkey Turkish - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 1 1 Muhammad Ajmal
00052472 - PubMed: Coppieters 2010 - M no Turkey Turkish - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 1 1 Muhammad Ajmal
00052473 - PubMed: Coppieters 2010 - F no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 2 1 Muhammad Ajmal
00052474 - PubMed: Coppieters 2010 - F no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 1 1 Muhammad Ajmal
00052475 - PubMed: Coppieters 2010 - F no Portugal Portuguese - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 2 1 Muhammad Ajmal
00052476 - PubMed: Coppieters 2010 - M no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 1 1 Muhammad Ajmal
00052477 - PubMed: Coppieters 2010 - M no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 2 1 Muhammad Ajmal
00052478 - PubMed: Coppieters 2010 - M no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 2 1 Muhammad Ajmal
00052479 - PubMed: Coppieters 2010 - F no Belgium Belgian - 0 - - LCA Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG 2 1 Muhammad Ajmal
00052480 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052481 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052482 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052483 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052484 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052485 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052486 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 2 1 Muhammad Ajmal
00052487 - - - ? ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis 1 1 Muhammad Ajmal
00052488 - PubMed: Li 2009 - M yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; clear lenses, hypermetropic, syneresis of vitreous, microrotatory infantile nystagmus, vertically oval discs, mild optic atrophy, vascular attenuation, peripheral pigmentation and no bone spicules, nonrecordable ERG 1 1 Muhammad Ajmal
00052489 - PubMed: Li 2009 - M yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; mild enophthalmos, clear lenses, clear vitreous, vertically oval discs, slightly hyperopic optic nerve fullness, decreased retinal light reflexes, minimal peripheral pigment changes, infantile nystagmus, nonrecordable ERG 1 1 Muhammad Ajmal
00052490 - PubMed: Li 2009 - F yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG 1 1 Muhammad Ajmal
00052491 - PubMed: Li 2009 - M yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; micronystagmus, pigmentary granular dystrophy, foveal atrophy, disc atrophy, widespread vascular attenuation and grainy midperiphery 1 1 Muhammad Ajmal
00052492 - PubMed: Li 2009 - F yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; micronystagmus, spared macula, disc atrophy, vascular attenuation, sandy RPE degeneration from inside the arcade to the periphery 1 1 Muhammad Ajmal
00052493 - PubMed: Li 2009 - M yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; no nystagmus, vascular attenuation, disc pallor, midperiphery sandy depigmentation, night blindness 1 1 Muhammad Ajmal
00052494 - PubMed: Li 2009 - M yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; disc pallor, vessels attenuated, nonrecordable ERG 1 1 Muhammad Ajmal
00052495 - PubMed: Li 2009 - F yes Saudi Arabia Arab - 0 - - RD retinal dystrophy; non-recordable ERG, disc pallor, neuroepithelial atrophy, nystagmus 1 1 Muhammad Ajmal
00052496 - PubMed: Yzer 2006 - ? no - European - 0 - - LCA Leber congenital amaurosis; night blindness, nystagmus, normal fundus, mild attenuation of retinal vasculature, hypopigmentation of RPE, diffuse RPE alterations 2 1 Muhammad Ajmal
00052497 - PubMed: Seong 2008 - ? ? Korea Korean - 0 - - LCA Leber congenital amaurosis; night blindness, severe visual impairment, oculodigital signs, extinguished ERG 2 1 Muhammad Ajmal
00052498 - PubMed: Hauswirth 2008 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis; severe visual abnormalities 1 1 Muhammad Ajmal
00052499 - PubMed: Hauswirth 2008 - F ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis; severe visual abnormalities 2 1 Muhammad Ajmal
00052500 - PubMed: Hauswirth 2008 - M ? ? (unknown) ? - 0 - - LCA Leber congenital amaurosis; severe visual abnormalities 1 1 Muhammad Ajmal
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