Phenotype #0000262508

Individual ID	00367170
Associated disease	-
Phenotype details	On examination, at the age of 67, her best corrected visual acuity was 20/400 in OD and 20/250 in OS with -8.00 D sphere in both eyes. Her axial eye length was 25 mm OD and 25.1 mm OS. Her intraocular pressure and anterior segment examination were unremarkable in both eyes. Her fundus examination revealed macular pigment clumping and RPE atrophy with beaten bronze appearance in both eyes. No vitreous abnormality was identified. Previous GVF revealed a relative central scotoma with generalized constriction on both eyes.
Diagnosis/Initial	Stargardt disease
Inheritance	Unknown
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	diagnosis of macular degeneration
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