Phenotype #0000055706

Individual ID	00075931
Associated disease	-
Phenotype details	retinitis pigmentosa; night blindness early in life with progressive constriction of their visual field, signs on funduscopic examination include attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc, the ERG responses were decreased in a rod–cone pattern or nonrecordable when the disease had reached an end stage, at 45 years of age: OD hand movements, OS light perception
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	unknown
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2016-02-22 12:22:09 +01:00 (CET)
Date last edited	2020-08-25 10:48:31 +02:00 (CEST)

Global Variome shared LOVD