Phenotype #0000056950

Individual ID	00077175
Associated disease	STGD1
Phenotype details	Stargardt disease, late onset; y60: Visual actuity: OD 20/20, OS 20/20, Flavimaculatus flecks with parafoveal chorioretinal atrophy and foveal sparing , dark choroid; y63: Paracentral scotoma, visual acuity for both eyes: 20/25. Confluent RPE spots in perifoveal region, yellow-white flecks reaching up to the midperiphery, Dark choroid, both eyes: pericentral absolute scotoma. Foveal sparing in the right eye.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	53y
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