Phenotype #0000260223

Individual ID	00364885
Associated disease	-
Phenotype details	At the age of 15, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 60um and OCT CFR (OS) was 55um. ERG group was: PERG abnormality with additional generalized cone ERG abnormality. (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	12y
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