Phenotype #0000054870

Individual ID	00075095
Associated disease	-
Phenotype details	retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Severe chorioretinal atrophy. Ringscotomas in the past.
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<88y
Phenotype/Onset	Night blindness
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