Disease #04210

Official abbreviation LCA
Name Leber congenital amaurosis (LCA)
OMIM ID -
Inheritance -
Individuals reported having this disease 1046
Phenotype entries for this disease 1018
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

1046 entries on 11 pages. Showing entries 1 - 100.
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00033039 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 1 1 Johan den Dunnen
00033043 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA autosomal recessive retinitis pigmentosa (ARRP) CRB1 CRB1 1 1 Johan den Dunnen
00033044 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA autosomal recessive retinitis pigmentosa (ARRP) CRB1 CRB1 1 1 Johan den Dunnen
00033053 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033054 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033056 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033058 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033059 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033060 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033061 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033062 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033064 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033065 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033066 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033068 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033076 - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - 0 - - LCA - CRB1 CRB1 2 1 Johan den Dunnen
00033079 - - - M - Netherlands - - 0 - - LCA - CEP290 CEP290 2 1 Johan den Dunnen
00033080 - - - - - France - - 0 - - LCA - CEP290 CEP290 2 1 Johan den Dunnen
00033082 - - - - - - - - 0 - - LCA - CEP290 CEP290 1 1 Johan den Dunnen
00033083 - - - - - - - - 0 - - LCA - CEP290 CEP290 1 83 Johan den Dunnen
00033084 - - - - - - - - 0 - - LCA - CEP290 CEP290 1 1 Johan den Dunnen
00033085 - - - - - - - - 0 - - LCA - CEP290 CEP290 1 1 Johan den Dunnen
00033352 - - - - - - - - 0 - - LCA - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033356 - - - - - - - - 0 - - LCA - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033357 - - - - - - - - 0 - - LCA - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033362 - - - - - - - - 0 - - LCA gliosis RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033363 - - - - - - - - 0 - - LCA - RPGRIP1 RPGRIP1 2 1 Leen Abu Safieh
00033364 - PubMed: Abu-Safieh 2013 - - - Saudi Arabia Arab - 0 - - LCA - RPE65 RPE65 1 1 Leen Abu Safieh
00033381 - - - ? ? ? (unknown) - - 0 - - LCA Bilateral contaract; keratoconus;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia AIPL1 AIPL1 1 1 Raheel Qamar
00033382 - - - ? ? ? (unknown) - - 0 - - LCA Bilateral plasties; Oculodigital Phenomena; Onset Visual loss AIPL1 AIPL1 1 1 Raheel Qamar
00033383 - - - M ? - Europe, north - 0 - - LCA foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033384 - - - M ? - Europe, north - 0 - - LCA foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033386 - - - ? ? ? (unknown) - - 0 - - LCA Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity AIPL1 AIPL1 2 1 Raheel Qamar
00033388 - - - M no Viet Nam Vietnamese - 0 - - LCA Bilateral pigmentary degeneration; significant hyperopia with astigmatism.; Onset Roving nystagmus;sluggish pupils, andphotophobi AIPL1 AIPL1 2 1 Raheel Qamar
00033389 - - - M no Viet Nam Vietnamese - 0 - - LCA Bluntedfoveal reflex; minimally attenuatedretinal vessels; andmildpigment dispersion with traces of finemottling; Onset Nystagmus, sluggish pupillary responses andmildhyperopiawith astigmatism AIPL1 AIPL1 2 1 Raheel Qamar
00033396 - - - ? ? Spain - - 0 - - LCA Nystagmus; Onset Severe visual loss AIPL1 AIPL1 2 1 Raheel Qamar
00033397 - - - ? ? Spain - - 0 - - LCA Nystagmus; Onset Severe visual loss AIPL1 AIPL1 2 1 Raheel Qamar
00033405 - - - ? no - white - 0 - - LCA Nystagmus; mildmottling of maculopathy; high myopia ; Onset Nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033406 - - - - no - Africa, north - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033407 - - - M ? - Swedish - 0 - - LCA foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033408 - - - - no - Africa, north - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033409 - - - F ? - Europe, north - 0 - - LCA Keratoconus; cataract; foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033410 - - - M ? - Africa, north; Jewish - 0 - - LCA foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033412 - - - ? - ? (unknown) - - 0 - - LCA Retinal drunes like depositions;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia AIPL1 AIPL1 2 1 Raheel Qamar
00033413 - - - - ? India Indian - 0 - - LCA MildMaculopathy ; Onset Severe pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033414 - - 3 generation family,3 affected M yes India - - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033415 - - 3 generation family,3 affected M yes India - - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033416 - - 3 generation family,3 affected F yes India - - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033417 - - - M no ? (unknown) - - 0 - - LCA dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033418 - - - F no ? (unknown) - - 0 - - LCA dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033419 - - - ? yes Pakistan Pakistani - 0 - - LCA Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033420 - - - ? yes Pakistan Pakistani - 0 - - LCA Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033421 - - 2 generation family,1 affected F no Bangladesh - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033428 - - - ? no - white - 0 - - LCA Nystagmus;moderate pigmentry retionpathy;maculopathy atrophy; drusen; presence of white retinal dots; posterior subcapsular cataract; moderate myopia; Onset Poor vision, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033429 - - 3 generation family, 2 affected M ? France - - 0 - - LCA - AIPL1 AIPL1 2 2 Raheel Qamar
00033430 - - - - no - - - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033433 - - - M no ? (unknown) - - 0 - - LCA dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033434 - - - F no ? (unknown) - - 0 - - LCA dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033435 - - - ? ? - (not applicable) - - 0 - - LCA Visual fieldchanges; ERG reduction; Onset Nystagmus, AIPL1 AIPL1 2 1 Raheel Qamar
00033436 - - - - ? Belgium - - 0 - - LCA mild maculopathy; absence of pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033437 - - 2 generation family,1 affected F no Portugal portugese - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033440 - - - ? - ? (unknown) - - 0 - - LCA Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia, Photosensitivity, Atrophy of retinal pigment andchoroid, pigmentary clumping AIPL1 AIPL1 2 1 Raheel Qamar
00033441 - - - ? - ? (unknown) - - 0 - - LCA Keratoconus; Bilateral Contaracts; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity AIPL1 AIPL1 2 1 Raheel Qamar
00033446 - - 3 generation family,1 affected F ? United States African–American - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033447 - - - - - United States - - 0 - - LCA Severe Maculopathy; Moderate pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033448 - - - - - France - - 0 - - LCA Onset Severe pigmentary Retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033451 - - - - ? France French - 0 - - LCA Onset Severe pigmentary Retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033460 - - - ? yes - Arab - 0 - - LCA Nystagmus; moderate hyperopia; Onset Poor vision;nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033461 - - - - ? Palestine Palestinian - 0 - - LCA MildMaculopathy; Onset Severe pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033462 - - 2 generation family 2 affectd, 2 carrier M no Palestine - - 0 - - LCA keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness AIPL1 AIPL1 2 1 Raheel Qamar
00033463 - - 2 generation family 2 affectd, 2 carrier M no Palestine - - 0 - - LCA keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness AIPL1 AIPL1 2 1 Raheel Qamar
00033464 - - 5 generation family,4 affected M no Palestine - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033465 - - 5 generation family,4 affected M no Palestine - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033466 - - 5 generation family,4 affected M yes Palestine - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033467 - - 5 generation family,4 affected F yes Palestine - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033471 - - - ? ? Morocco - - 0 - - LCA Onset Severe pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033472 - - - ? no - Africa, north - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033473 - - - ? no - Africa, north - 0 - - LCA - AIPL1 AIPL1 2 1 Raheel Qamar
00033474 - - 4 generation family,4 affected F yes Morocco - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033475 - - 4 generation family,4 affected F yes Morocco - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033476 - - 4 generation family,4 affected M yes Morocco - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033477 - - 4 generation family,4 affected F yes Morocco - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033486 - - - - - United States - - 0 - - LCA MildMaculopathy; Onset Severe pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033492 - - 2 generation family, 1 affected F ? - - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
00033493 - - - - - United States - - 0 - - LCA MildMaculopathy; Onset Severe pigmentary retinopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033494 - - - - - United States - - 0 - - LCA MildMaculopathy AIPL1 AIPL1 2 1 Raheel Qamar
00033495 - - - M ? - Europe, north - 0 - - LCA Cataract; foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033496 - - - F ? - Europe, north - 0 - - LCA Foveal depression; RPE pigmentation abnormalities; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033498 - - - ? - ? (unknown) - - 0 - - LCA Bone specule like changes; Bull's eye appearence; Atrophic macular lesions; drusion like deposits;  Oculodigital Phenomena; Onset Visual Loss, Severe pigmentary retinopathy, Atrophy of retinal pigment, mottling of hypopigmentation. AIPL1 AIPL1 2 1 Raheel Qamar
00033499 - - - F ? - Europe, north - 0 - - LCA Cataract; Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033500 - - - F ? - Europe, north - 0 - - LCA RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 1 1 Raheel Qamar
00033501 - - - M ? - Europe, north - 0 - - LCA Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033502 - - - F ? - Europe, north - 0 - - LCA Cataract; retinal degeneration; foveal depression; Onset Visual disturbance, nystagmus, visual acuity, nyctalopia AIPL1 AIPL1 2 1 Raheel Qamar
00033517 - - 3 families, 10 affected ? ? Pakistan - - 0 - - LCA Severe keratoconus; poor acuity; macular atrophy AIPL1 AIPL1 2 1 Raheel Qamar
00033518 - - 3 families, 10 affected ? ? Pakistan - - 0 - - LCA Severe keratoconus; poor acuity; macular atrophy AIPL1 AIPL1 2 1 Raheel Qamar
00033519 - - 3 families, 10 affected ? ? Pakistan - - 0 - - LCA Severe keratoconus; poor acuity; macular atrophy AIPL1 AIPL1 2 1 Raheel Qamar
00033520 - - - F no - Caucassian - 0 - - LCA Grossly intact extraocular movement; sluggishpupillary responses; normal intraocular pressure to palpation;andsevere hyperopia with astigmatism.; Onset Nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033521 - - - ? no - Africa - 0 - - LCA Nystagmus; Moderate pigmentry retinopathy;bone spicules; mildmolting maculopathy; presence of white retinal dots;myopia; Onset Poor vision, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033522 - - - ? no - white - 0 - - LCA Nystagmus; Moderate pigmentry retinopathy;bone spicules; maculopathy atrophy; Onset Poor vision, nystagmus AIPL1 AIPL1 2 1 Raheel Qamar
00033523 - - 2 generation family, 1 affected F ? - - - 0 - - LCA ? AIPL1 AIPL1 2 1 Raheel Qamar
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