Phenotype #0000055825

Individual ID	00076050
Associated disease	STGD1
Phenotype details	Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.3/0.3, RPE atrophy; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	11y
Phenotype/Onset	any symptom of visual impairment
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