Phenotype #0000117016

Individual ID 00144238
Associated disease -
Phenotype details late RP onset but fast disease progression; age 41; BCVA 20/40 both eyes; optic disc pallor, attenuated retinal arterioles, and bone spicule-like pigments in the mid-peripheral retina of patients; OCT thickened inner/outer segment (IS/OS) layer with a preserved macular structure
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 32y
Phenotype/Onset -
Protein -
Owner name Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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