Phenotype #0000337189

Individual ID 00448000
Associated disease -
Phenotype details see paper; ..., 51y-nyctalopia, peripheral vision difficulties; best corrected visual acuity OD 20/50 OS 20/25 (57y); 61y-Goldmann VF (OU) reduced extent (V4e and III4e targets) with greater loss of nasal field; 61y-pigment accumulation retinal midperiphery; 61y-OCT (OU) central island outer nuclear layer that abnormally declined in thickness with eccentricity; 61y-short-wavelength FAF (OU) diffuse RPE pathology; full field ERG 61y-reduced rod and cone responses
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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