All individuals with variants in gene RIMS2

9 entries on 1 page. Showing entries 1 - 9.
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00303229 Fam1PatIII-3 PubMed: Mechaussier 2020 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Senegal - - - - - ? nystagmus; photophobia; no night blindness; visual acuity (RE) 20/250, visual acuity (LE) 20/320, refractive error (RE) -2 (1.75) 90°, refractive error (LE) -1; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration, greyish retina; retinal thinning at the expense of inner retina; optic nerve dysversion; MRI brain normal; insulin-dependent diabetes mellitus; hyperglycemia: 1.26 g/L 1 3 Johan den Dunnen
00303230 Fam1PatIII-5 PubMed: Mechaussier 2020 - F yes Senegal - - - - - ? nystagmus; photophobia; no night blindness; visual acuity (RE) 20/3200, visual acuity (LE) 20/320, refractive error (RE) -0.75 (1.25) 20°, refractive error (LE) -2.50 (-2.25) 170°; ERG electronegativity; temporal optic disc pallor; no peripheral pigmentary migration; retinal thinning at the expense of inner retina; retrofoveal focal ellipsoid zone disruption; temporal retinal nerve fiber layer loss; autistic behavior; MRI brain normal; fasting blood glucose normal: 0.94 g/L; hyperglycemia: 1.13 g/L 1 1 Johan den Dunnen
00303231 Fam1PatIV-4 PubMed: Mechaussier 2020 - M yes Senegal - - - - - ? erratic ocular movement; photophobia; no night blindness; refractive error (RE) +2.25, refractive error (LE) 3; temporal optic disc pallor; no peripheral pigmentary migration; neurodevelopmental delay, general movement disorganization, ataxia manifestations, poor language; MRI brain dysmorphic corpus callosum; hyperglycemia: 1.33 g/L 1 1 Johan den Dunnen
00303232 Fam2PatII-2 PubMed: Mechaussier 2020 2-generation family, 1 affected, unaffected non-carrier parents M no France - - - - - ? erratic ocular movement; photophobia; no night blindness; visual acuity (RE) 20/320, visual acuity (LE) 20/320, refractive error (RE) 6, refractive error (LE) 6; ERG electronegativity; optic disc pallor; no peripheral pigmentary migration; retinal thinning at the expense of inner retina; autistic features, stereotypies/obsessive-compulsive disorders; MRI brain normal; fasting blood glucose normal: 0.85 g/L 2 1 Johan den Dunnen
00303233 Fam3PatII-1 PubMed: Mechaussier 2020 2-generation family, 2 affected (F, M), unaffected non-carrier parents - yes Saudi Arabia - - - - - ? nystagmus; photophobia; no night blindness; visual acuity (RE) light perception, visual acuity (LE) light perception; temporal optic-disc pallor; no peripheral pigmentary migration; severe autistic behavior, aggressivity, anxiety, no language 1 2 Johan den Dunnen
00303234 Fam3PatII-2 PubMed: Mechaussier 2020 - - yes Saudi Arabia - - - - - ? nystagmus; photophobia; no night blindness; visual acuity (RE) light perception, visual acuity (LE) light perception; temporal optic-disc pallor; no peripheral pigmentary migration; autistic behavior, poor language 1 1 Johan den Dunnen
00303235 Fam4PatII-1 PubMed: Mechaussier 2020 2-generation family, 1 affected, unaffected non-carrier parents M yes France;Senegal - - - - - ? nystagmus; photophobia; night blindness; visual acuity (RE) around 20/200, visual acuity (LE) around 20/200, refractive error (RE) -3 (-1) 175°, refractive error (LE) -4.50 (-2) 170°; ERG electronegativity; temporal optic-disc pallor; no peripheral pigmentary migration; Macular SD-OCT normal; neurodevelopmental delay, eventually with no learning disability; ataxia; hyperactive and mild autistic behavior; delay in language acquisition; MRI brain normal; normal blood glucose 1 1 Johan den Dunnen
00335540 Fam4PatII1 PubMed: Huang 2017 2-generation family, affected father/daughter F - China - - - - - retinal disease - 1 1 Johan den Dunnen
00447124 CRD-853 PubMed: Weisschuh 2024 patient M - Germany - - - - - ? - 1 1 Johan den Dunnen
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