All individuals with variants in gene ADIPOR1

12 entries on 1 page. Showing entries 1 - 12.
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00054743 - - - M yes India South Asian - - 27y - retinal degeneration - 1 1 Mingchu Xu
00232021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00416213 ? PubMed: Xu 2016 born from a consanguineous marriage between first cousins M - India South Asian - - - - retinal disease 7y9m: compound myopic refractive error (-6.00 sph + 4.00 cyl x 090 both eyes) and advanced pigmentary retinopathy; 17y: best corrected visual acuity right, left eye: 20/70, 20/50, 27y: 20/200 both eyes, no functional visual field or peripheral vision; bio-microscopy: early posterior cortical pre-capsular cataracts in each eye, considerable vitreous syneresis with strands, cells, and pigment; retinal examination: diffuse vascular attenuation, advanced waxy optic nerve pallor, and extensive pigmentary retinopathy in all four quadrants of each eye; history of intellectual disability manifested in part by profound speech delay, speaking his first recognizable words at age 3y6m; limited attention span, considerable developmental delay, and speech pathology that required special education; flat feet, mostly truncal obesity - clinical features simulate Bardet-Biedl Syndrome, but no polydactyly, no history of renal disease or other constitutional complications - diagnosed with syndromic RP 1 1 LOVD
00416218 V:6 PubMed: Zhang 2016 Chinese family, proband's son M - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.8 / 0.7; fundus features: bilateral attenuation of retinal arterioles, tiny gray dots scattered throughout the retina 1 1 LOVD
00416219 V:8 PubMed: Zhang 2016 Chinese family, proband's brother's daughter F - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.8 / 0.8; fundus features: bilateral attenuation of retinal arterioles, tiny gray dots scattered throughout the retina 1 1 LOVD
00416220 IV:1 PubMed: Zhang 2016 Chinese family, proband's mother's sister's son M - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.5 / 0.6; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium degeneration mixed with gray dots deposition 1 1 LOVD
00416221 IV:3 PubMed: Zhang 2016 Chinese family, proband's mother's sister's daughter F - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.1 / 0.2; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium degeneration, bone spicule-like pigmentation in the mid-periphery retina, pale optic disc 1 1 LOVD
00416222 IV:7 PubMed: Zhang 2016 Chinese family, proband F - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.1 / 0.1; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium degeneration, bone spicule-like pigmentation in the mid-periphery retina, perifoveal atrophy, pale optic disc 1 1 LOVD
00416223 IV:10 PubMed: Zhang 2016 Chinese family, proband's brother M - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.6 / 0.6; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium degeneration mixed with gray dots deposition 1 1 LOVD
00416224 III:3 PubMed: Zhang 2016 Chinese family, proband's mother's sister F - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: 0.04 / 0.06; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium and choriocapillaris atrophy, bone spicule-like pigmentation, pale optic disc 1 1 LOVD
00416225 III:6 PubMed: Zhang 2016 Chinese family, proband's mother F - China Han Chinese - - - - retinal disease best corrected visual acuity right/left eye: hand movement / hand movement; fundus features: bilateral attenuation of retinal arterioles, widespread retinal pigment epithelium and choriocapillaris atrophy, bone spicule-like pigmentation, pale optic disc 1 1 LOVD
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