Phenotype #0000260142

Individual ID	00364804
Associated disease	-
Phenotype details	Visual acuity in the STGD1 cases was affected at age of 8–14 years. Macular atrophy was present with some hyperpigmentation and yellowish flecks of the posterior pole. The peripheral retina was preserved in young adulthood, although peripheral retinal function and visual fields diminished in adulthood. In the full-field ERGs the rod, mixed rod-cone and cone amplitudes were within normal range but the 30 Hz flicker amplitude was decreased to 40 % of normal level with prolonged implicit time.
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<14y
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