All individuals with variants in gene EFEMP1

50 entries on 1 page. Showing entries 1 - 50.
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00292796 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 147 Mohammed Faruq
00304830 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00328407 691028 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328408 680766 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00335837 - PubMed: Ramkumar 2017 - - - United States - - - - - retinal disease - 1 1 LOVD
00362009 Pat12AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362696 - PubMed: Downs 2007 - - - - - - - - - retinal disease - 1 1 Julia Lopez
00363360 HM704 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363361 HM741 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363383 HM381 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363645 11DG0906 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease non-syndromic 1 1 LOVD
00373868 Rp261 PubMed: Zhao 2015 family - - Northern Ireland - - - - - retinal disease see paper; ... 1 1 LOVD
00375411 RP#002 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375478 DonPat1 PubMed: Alapati 2014 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00375479 DonPat2 PubMed: Alapati 2014 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00375480 DonPat3 PubMed: Alapati 2014 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00379417 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379418 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00381811 - PubMed: Wang-2014 - - - - - - - - - retinal disease - 1 1 LOVD
00388498 13009597 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00390939 - PubMed: Maggi_2021 - M - Switzerland - - - - - retinal disease - 1 1 LOVD
00390948 - PubMed: Maggi_2021 - F - Switzerland - - - - - retinal disease - 1 1 LOVD
00390985 - PubMed: Maggi_2021 - F - Switzerland - - - - - retinal disease - 1 1 LOVD
00415631 II:1 PubMed: Matsumoto 2001 - F - - - - - - - retinal disease progressive visual loss and metamorphopsia more pronounced in the right eye. HerBCVA: counting fingers at 2 feet (RE) and 20/32 (LE). 1 1 LOVD
00415632 III:1 PubMed: Matsumoto 2001 - F - - - - - - - retinal disease - 1 1 LOVD
00415633 III:3 PubMed: Matsumoto 2001 - F - - - - - - - retinal disease - 1 1 LOVD
00415634 - PubMed: Narendran 2005 - - - Australia - - - - - retinal disease - 1 2 LOVD
00415635 - PubMed: Narendran 2005 - - - Australia - - - - - retinal disease - 7 54 LOVD
00415636 - PubMed: Gerth 2009 - F - - French/Scottish/Dutch - - - - retinal disease - 1 1 LOVD
00415637 mother of case 1 PubMed: Gerth 2009 - F - - French/ Scottish/Dutch - - - - retinal disease - 1 1 LOVD
00415638 Family 1:III-1 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - retinal disease bilateral macular degeneration; progressive distortion of vision and severe vision loss in the left eye; BCVA: 0.08 LE and 1.5 RE; basal laminar drusen and hyperplasia of the RPE in the macular areas in both eyes 1 1 LOVD
00415639 Family 1:II-2 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - retinal disease BCVA was 1.0 RE and 0.8 LE; innumerable drusen in a radial distribution, large yellowish confluent drusen, RPE alterations, and peripapillary drusen 1 1 LOVD
00415640 Family 1:III-2 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - retinal disease BCVA was 1.2 in both eyes. Color fundus photographs showed innumerable, small, discrete drusen in a radial pattern and peripapillary drusen in the posterior poles of both eyes 1 1 LOVD
00415641 Family 1:I-1 PubMed: Takeuchi 2010 - F - Japan Japanese - - - - retinal disease - 1 1 LOVD
00415642 Family A PubMed: Fu 2007 Stone 1999 - - - - - - - - retinal disease - 1 10 LOVD
00415643 Family B - III:1/III:2 PubMed: Fu 2007 parents of IV M;F yes India - - - - - retinal disease - 1 2 LOVD
00415644 Family B - IV:1 PubMed: Fu 2007 older brother M yes India - - - - - retinal disease severe phenotype (retina demonstrated drusen extending beyond the posterior pole with associated retinal degeneration) 1 1 LOVD
00415645 Family B - IV:2 PubMed: Fu 2007 - M yes India - - - - - retinal disease severe phenotype 1 1 LOVD
00415646 II:11 PubMed: Zhang 2014 - F - China Chinese - - - - retinal disease severe vision loss in the right eye. VA: hand motion RE 20/32 LE; Innumerable radical drusen, confluent drusen, CNV, and RPE changes (OU) 1 1 LOVD
00415647 II:2 PubMed: Zhang 2014 - F - China Chinese - - - - retinal disease decreased vision in the left eye; BCVA:20/25RE and 20/50 LE; focal confluent drusen aggregated on the macular (left eye) and juxtamacular region (right eye); Confluent drusen aggregated on the macular (OS) and juxtamacular area (OD) 1 1 LOVD
00415648 II:4 PubMed: Zhang 2014 - M - China Chinese - - - - retinal disease blurred and distorted vision; BCVA: 20/80 in the right eye and 20/32 in the left eye; innumerable drusen in a radial pattern and peripapillary drusen in the posterior poles of both eyes 1 1 LOVD
00415649 II:9 PubMed: Zhang 2014 - F - China Chinese - - - - retinal disease BCVA: 20/32 RE - 20/25 LE 1 1 LOVD
00415650 II:15 PubMed: Zhang 2014 - M - China Chinese - - - - retinal disease BCVA: 20/200 RE - 20/63 LE; Confluent drusen, peripapillary drusen, CNV and RPE changes (OU), radical drusen (OD) 1 1 LOVD
00415651 III:4 PubMed: Zhang 2014 - M - China Chinese - - - - retinal disease BCVA: 20/16 RE - 20/16 LE; Discrete drusen 1 1 LOVD
00415652 I:1, I:4, II:5, II:7, II:10 PubMed: Mackay 2015 - - - - African-American - - - - retinal disease significantly elevated intra ocular pressure (IOP) >30 mm Hg with consistent visual field and/or optic nerve abnormalities. 1 5 LOVD
00415653 patient PubMed: Zhang 2018 - F - China Chinese - - - - retinal disease impaired visual acuity for 10 years especially in the right eye with deterioration for 5 months; BCVA(R/L):5.0/5.1; IOP(R/L): 17/18mmHg; the remarkable diffuse pinpoint or drusen-like speckle yellow white lesions affected the posterior fundus, with varying degrees of retina/retinal pigment epithelium (RPE)/choroid atrophy around the disc 1 1 LOVD
00415654 brother PubMed: Zhang 2018 - M - China Chinese - - - - retinal disease BCVA of 5.0 in both eyes; diffuse pinpoint yellow white deposits throughout the macular and peripapillary area with honeycomblike pigmentary changes around the disc; hyperreflective thickening beneath the pigmentary epithelium accompanied by wavy uplift 1 1 LOVD
00415655 mother PubMed: Zhang 2018 - F - China Chinese - - - - retinal disease poor visual acuity for at least 20 years, especially at nighttime; BCVA of the right eye FC/10 cm, and the left eye 4.0; corneal opacity in both eyes and the fundus could not be observed clearly; OCT showed granular cloudiness, and corneal endothelium detachment in the peripheral part; thickening in the posterior wall of both eyeballs 1 1 LOVD
00447633 STGD-447 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00460984 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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