Phenotype #0000261873

Individual ID	00366535
Associated disease	-
Phenotype details	patients III8 and III10 presented initial phenotype 4 STGD (Stargardt fundus flavimaculatus, later age of onset) with central atrophy, yellow-white dots, macular atrophy, hyperfluorescent atrophic spots, and silent choroid. After 9-year progression of the disease, both presented CRD with diffuse macular, peripapillary, and peripheral RPE atrophy, regression of the yellow-white dots, and hyperfluorescent dots. Full-field ERG showed severe altered photopic and scotopic responses.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	unknown
Protein	-
Owner name	Stéphanie Cornelis
Database submission license
Created by	Stéphanie Cornelis
Date created	2021-05-03 14:25:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD