All individuals with variants in gene ARHGEF18

11 entries on 1 page. Showing entries 1 - 11.
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00299640 FamGC18203Pat1 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents F - - - - - - - retinal disease see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110 2 1 Johan den Dunnen
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 2 1 Johan den Dunnen
00299642 FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - retinal disease see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165 1 1 Johan den Dunnen
00299643 PatA PubMed: Arno 2017 phenotype unrelated to RP78, causative variant not identified - - - - - - - - ? - 1 1 Johan den Dunnen
00299644 PatB PubMed: Arno 2017 phenotype unrelated to RP78, causative variant identified - - - - - - - - ? - 1 1 Johan den Dunnen
00299645 PatC PubMed: Arno 2017 phenotype unrelated to RP78, causative variant not identified - - - - - - - - ? - 2 1 Johan den Dunnen
00299646 PatD PubMed: Arno 2017 phenotype unrelated to RP78, causative variant identified - - - - - - - - ? - 1 1 Johan den Dunnen
00390164 G005994 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390165 G006006 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00447568 MISC-298 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 2 1 Johan den Dunnen
00450704 DNA15-06673 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 2 1 Rebekkah Hitti-Malin
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