Phenotype #0000056956

Individual ID	00077181
Associated disease	STGD1
Phenotype details	Stargardt disease, late onset; y72: Visual actuity: OD count fingers, OS 20/200, Chorioretinal atrophy extending to midperipheral retina; y59: Visual acuity OD:20/25 OS:20/25 RPE atrophy surrounding the fovea completely in right eye and incompletely, ~2708; in OD, yellow-white irregular flecks in posterior pole as well as diffusely spread hypopigmented spots. Foveal sparing in both eyes.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	57y
Phenotype/Onset	The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist
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