All individuals with variants in gene RD3

43 entries on 1 page. Showing entries 1 - 43.
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00059925 - PubMed: De Castro-Miró 2014 family, 4 patients M ? Spain - - - - - RP - 1 4 Marta de Castro-Miró
00077971 - PubMed: Jinda 2014 - M ? Thailand ? - - - - retinal disease retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9. 1 1 Stéphanie Cornelis
00100088 PKRD141;61141 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - RD - 1 1 James Hejtmancik
00144156 - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - retinal disease - 1 1 Rob W.J. Collin
00144252 - PubMed: Eisenberger 2014 index patient M no Germany - - - - - retinal disease - 1 1 Rob W.J. Collin
00289682 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 53 Mohammed Faruq
00325487 3580 PubMed: Zenteno 2020 single patient - - Mexico - - - - - retinal disease retinitis pigmentosa 1 1 Johan den Dunnen
00332185 JB320 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 2 1 LOVD
00332210 JB284 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 2 1 LOVD
00333357 Pat6 PubMed: Costa 2017 - M - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00358919 Fam31 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - retinal disease see paper; ... 2 1 LOVD
00372445 152 PubMed: Wang 2015 index case - - China - - - - - retinal disease see paper; ... 2 1 LOVD
00372481 159 PubMed: Wang 2015 index case - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00377519 EYE47 PubMed: Hosono 2018 proband, family EYE47 F no Japan Asian - - - - retinal disease see paper 1 1 LOVD
00381594 - PubMed: Eisenberger-2013 - M ? Germany - - - - - retinal disease - 1 1 LOVD
00381942 11 PubMed: Weisschuh 2018 - F - Germany - - - - - retinal disease BCVA OD-OS:light perception; nystagmus; ; cataract 1 1 LOVD
00385617 83RE PubMed: de Castro-Miró-2014 - M - - - - - - - retinal disease - 1 4 LOVD
00386205 RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00388853 137 PubMed: Weisschuh 2020 Filing key number: 59, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00388993 277 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00388994 278 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00388995 279 PubMed: Weisschuh 2020 Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391584 83 PubMed: Hull 2020 - ? - New Zealand Pacific - - - - retinal disease - 1 1 LOVD
00408919 - PubMed: Friedman-2005 - - - India - - - - - retinal disease acular changes with atrophy and spicular pigment in the midperiphery. VA was reduced to 20/200, with central scotoma in both eyes 1 1 LOVD
00408920 - PubMed: Friedman-2006 - F - United States American - - - - retinal disease - 4 1 LOVD
00408921 - PubMed: Friedman-2006 - F - United States American - - - - retinal disease round atrophic lesions in both maculae, cellophane-like sheen and atrophy in the other regions of the posterior poles. CRD pattern, with cone ERG b-wave amplitudes at about one-third of normal and rod ERG amplitudes at ?80% of normal levels 1 1 LOVD
00408922 - PubMed: Friedman-2006 - F - - Scandinavian - - - - retinal disease atrophic lesions in both maculae, and there was a cellophane-like sheen and atrophy in the other regions of the posterior poles… see paper 1 1 LOVD
00408923 Fam0659: 1,2,4,5,7,10 PubMed: Preising-2012 - - yes - Kurdish - - - - retinal disease - 1 6 LOVD
00408924 NEM1/II1 PubMed: perrault-2013 - F yes Morocco - - - - - retinal disease Macular rearrangement, With abnormal macular pigmentation with starshape Diffuse salt and pepper aspect, thin vessels . Nystagmus since birth,no ocular pursuit, altered pupillary reflexes 1 1 LOVD
00408925 NEM2/II1 PubMed: perrault-2013 - F yes Morocco - - - - - retinal disease Nystagmus since birth altered pupillary reflexes, Keratoconus 1 1 LOVD
00408926 NEM2/II2 PubMed: perrault-2013 - F yes - - - - - - retinal disease Nystagmus since birth, altered pupillary reflexes 1 1 LOVD
00408927 NEM3/II2 PubMed: perrault-2013 - F yes Lebanon - - - - - retinal disease Salt and pepper retina, thin vessels, marked macular atrophy. Nystagmus at birth, DOSF 1 1 LOVD
00408928 NEM3/II3 PubMed: perrault-2013 - F yes - - - - - - retinal disease - 1 1 LOVD
00408929 NEM3/II4 PubMed: perrault-2013 - M yes - - - - - - retinal disease - 1 1 LOVD
00408930 NEM4/II1 PubMed: perrault-2013 - F yes Turkey - - - - - retinal disease Macular rearrangement, thin retinal vessels, dull retina with no pigmentary migrations. 1 1 LOVD
00408931 NEM4/II2 PubMed: perrault-2013 - F yes Turkey - - - - - retinal disease Macular rearrangement, thin retinal vessels, dull retina with no pigmentary migrations. 1 1 LOVD
00408932 F16338/LCA59-2-94 PubMed: perrault-2013 - F yes Turkey - - - - - retinal disease Macular atrophy, RPE atrophy with salt and pepper aspect, some bone-spicule pigmentin the mid periphery. Nystagmus since birth, altered papillary reflexes 1 1 LOVD
00408933 NEM5/II1 PubMed: perrault-2013 - F yes Algeria - - - - - retinal disease Macular rearrangement (4 yrs), thin retinal vessels, dull retina with no pigmentarymigrations . Nystagmus since birth, no ocular pursuit, altered pupillary reflexes 1 1 LOVD
00408934 FJC/ PubMed: perrault-2013 - F yes Mexico - - - - - retinal disease - 1 1 LOVD
00408935 - PubMed: dikkaya-2020 - M - - - - - - - retinal disease Welldemarcated central foveal atrophy , perifoveal hyperautofluorescent ring and irregular hyperautofluorescence outside the vascular arcade. An arrest in foveal development and loss of outer retinal structure including outer nuclear layer, external limiting membrane, ellipsoid zone and interdigitation zone at the fovea. 1 1 LOVD
00447651 ARRP-301 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 1 2 Johan den Dunnen
00447687 OAK-745 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00451541 FamCPatIV5 PubMed: Basharat 2024 sister F yes Pakistan - - - - - ? no night vision; no perception light; no nystagmus; corneal haze left eye; no photophobia; bilateral microcornea 1 1 Rabia Basharat
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