Phenotype #0000337190

Individual ID 00448001
Associated disease -
Phenotype details see paper; ..., 60y-retinal degeneration OU found at the same time as retinal detachment OD; best corrected visual acuity OS 20/25 (62y); static VF (OS) marked narrowing; 62y-extensive bone-spicule–like pigment retinal periphery; 62y-OCT (OU) thinned outer nuclear layer abnormally declining in thickness with increasing eccentricity fovea; 62y-short-wavelength FAF (OU) diffuse RPE pathology with relative sparing superior sector posterior pole; full field ERG 62y-not recordable rod and cone responses; 60y-retinal detachment OD
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Susanne Roosing
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-09 14:03:00 +01:00 (CET)
Date last edited N/A

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