Global Variome shared LOVD

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Phenotype #0000308181 Individual ID 00416461 Associated disease - Phenotype details atypical retinitis pigmentosa; 40y: best corrected visual acuity right, left eye: 20/20, 20/40; optic disks pale, one disc area zone of retinal pigment epithelial atrophy centered on fixationin in each eye; yiny drusen-like deposits most notable at the edges of the atrophic areas, right eye:a 1.5x4 disc diameter zone of retinal pigment epithelium atrophy with some clumps of pigment within the atrophic zone; no classic bone spicules; fluorescein angiography: normal choroidal filling with relative hyperfluorescence in the area of retinal pigment epithelium atrophy; electroretinography: essentially normal except for diminished light adapted responses Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-31 11:23:45 +02:00 (CEST) Date last edited N/A

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