All individuals with variants in gene RIMS1

54 entries on 1 page. Showing entries 1 - 54.
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00033114 - - - F - - - - - - - retinal disease - 1 1 Kornelia Neveling
00033134 - - - M - - - - - - - retinal disease retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability 1 1 Kornelia Neveling
00050164 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00173872 RP191 PubMed: Xu 2014 - - - China - - - - - retinal disease - 1 1 Isabelle Audo
00294178 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00294179 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00331994 Pat132 PubMed: Birtel 2018 family M - Germany - - - - - retinal disease reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline 1 1 LOVD
00333365 Pat7 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00333429 RD6–02 PubMed: Wang 2017 - - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00333486 patient PubMed: Li 2017 - F - China - - - - - ? see paper; ... 1 1 Johan den Dunnen
00358951 Case71927 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00363351 HM483 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00373509 RH11 PubMed: Liu 2015 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00375420 RP#012 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375422 RP#015 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00375431 RP#025 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00376735 - PubMed: Robson 2008 - M - - - - - - - retinal disease Areas of macular atrophy and pigmentation BE. Attenuated of atrophy BE vessels and peripheral areas 1 1 LOVD
00376738 - PubMed: Robson 2008 - F - - - - - - - retinal disease Bilateral macular atrophy and attenuated vessels 1 1 LOVD
00376739 - PubMed: Robson 2008 - F - - - - - - - retinal disease Extensive RPE atrophy and patchy pigmentation RE.LE. Attenuated vessels 1 1 LOVD
00376740 - PubMed: Robson 2008 - M - - - - - - - retinal disease RE: RPE changes. LE: Well demarcated macular atrophy 1 1 LOVD
00376741 - PubMed: Robson 2008 - M - - - - - - - retinal disease Extensive macular RPE atrophy ""and abnormal pigmentation LE.RE.surrounded by a ring of high density. Narrow Occasional scattered peripheral bridge of RPE sparing over"" bone-spicule pigmentation central macula of RE 1 1 LOVD
00376742 - PubMed: Robson 2008 - F - - - - - - - retinal disease Mild bilateral RPE changes Parafoveral ring of high-density AF, BE at maculae 1 1 LOVD
00381814 - PubMed: Wang-2014 - - - - - - - - - retinal disease - 1 1 LOVD
00381815 - PubMed: Wang-2014 - - - - - - - - - retinal disease - 1 1 LOVD
00386176 RPN-289 PubMed: Rodriguez-Munoz 2020 family fRPN-132, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00386195 RPN-311 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386230 RPN-419 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - retinal disease - 1 1 LOVD
00386262 RPN-104 PubMed: Rodriguez-Munoz 2020 family fRPN-38, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00387391 11 PubMed: Sun 2020 - F - China - - - - - retinal disease posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss 1 1 LOVD
00388036 8 PubMed: Wang 2016 - M - United States - - - - - retinal disease , Bilateral retinal detachment, cataracts, leukocoria, possible hearing loss, delayed milestones 1 1 LOVD
00389309 593 PubMed: Weisschuh 2020 Filing key number: 214, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00392333 191323 PubMed: Xiao-2021 - F - China - - - - - retinal disease best corrected visual acuity right/left eye: 0.05/0.02, electroretinograhy responses: extinguished 1 1 LOVD
00393347 RP-045 PubMed: Ng 2021 - F ? China - - - - - retinal disease - 1 1 LOVD
00393348 RP-064 PubMed: Ng 2021 - F ? China - - - - - retinal disease - 1 1 LOVD
00393349 RP-073 PubMed: Ng 2021 - F ? China - - - - - retinal disease - 1 1 LOVD
00393758 - PubMed: Liu-2020 - F - - - - - - - retinal disease - 1 1 LOVD
00395879 F301 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00413804 II:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/60–6/60; Bilateral symmetrical macular atrophy and attenuated retinal vessels; Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring ofrelative increased AF; Reduced cone and rod responses ; Absent PERG; Bilateral medium protan, deutan and tritan defects 1 1 LOVD
00413805 II:5 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 3/36–3/60; Bilateral macular atrophy; attenuated retinal vessels and peripheral areas ofatrophy (fig 4); Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring ofrelative increased AF; Markedly reduced cone and absent rod responses ; Absent PERG; Bilateral medium protan, deutan and tritan defects 1 1 LOVD
00413806 II:7 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/9–6/9; Bilateral ‘‘bull’s eye maculopathy’’ ; Concentric rings of increased and decreased AF ; Borderline reduced maximal responses ; Reduced PERG; Bilateral mild protan, deutan and tritan defects 1 1 LOVD
00413807 III:1 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/36–6/36; Bilateral macular RPE changes with areas of atrophy and pigmentation;attenuated retinal vessels with peripheral areas of atrophy; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral mild protan, deutan and tritan defects 1 1 LOVD
00413808 III:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/9–6/9; RE: RPE changes LE: Well definedarea of macular atrophy; RE: Concentric rings of increased and decreased AF LE : Decreased AFcorresponding to atrophy seen on ophthalmoscopy with surrounding ring of relative increased AF; Borderline reduction ; Absent PERG; Bilateral mild protan, deutan and tritan defects 1 1 LOVD
00413809 III:6 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 3/60–6/60; Extensive RPE atrophy and areas of pigmentation RE . LE; and attenuated retinal vessels; Bilateral decreased AF centrally with a surrounding ring of relative increased AF; Cone responses more markedly reduced than rod ; Absent PERG; Bilateral medium protan, deutan and tritan defects 1 1 LOVD
00413810 IV:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/6–6/6; Bilateral mild macular RPE changes; Bilateral perifoveal rings of relative increased AF; Borderline reduction ; Reduced PERG 1 1 LOVD
00413811 IV:3 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - retinal disease VA(RE-LE): 6/18–3/60; Extensive RPE atrophy and areas of pigmentation LE . RE ; Bilateral decreased AF centrally with a surrounding ring of relative increased; Markedly reduced cone and rod responses ; Absent PERG; Bilateral mild protan, deutan and tritan defects 1 1 LOVD
00413812 - PubMed: Warwick-2017 - - - (United Kingdom (Great Britain)) - - - - - retinal disease VA(RE-LE): 20/23-20/33; bilateral CMO; mid-peripheral ring scotomas; primary photoreceptor abnormality involving both rods and cones 1 1 LOVD
00420584 F301 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00426945 49_58 PubMed: Zhu 2022 family 49, individual 58 F - - - - - - - retinal disease - 1 1 LOVD
00447094 CRD-787 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - ? - 1 4 Johan den Dunnen
00447318 SRP-1253 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447626 STGD-379 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447661 CD-543 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - ? - 1 4 Johan den Dunnen
00447664 CD-584 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 1 2 Johan den Dunnen
00447668 CRD-635 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
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