Phenotype #0000260216

Individual ID	00364878
Associated disease	-
Phenotype details	At the age of 13, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.18 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected
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