Phenotype #0000054657

Individual ID	00074882
Associated disease	STGD1
Phenotype details	Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
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	N/A

Global Variome shared LOVD