Phenotype #0000255935

Individual ID	00360530
Associated disease	-
Phenotype details	Symmetrical disciform areas of retinal pigment epithelial (RPE) atrophy and some interspersed patches ofchoroidal atrophy. However, the foveolar RPE is widely intact. These morphological changes correspond with central visual field defects but only mild foveolar sensitivity losses and normal peripheral fields.
Diagnosis/Initial	pseudo-Stargardt disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD