Phenotype #0000259255

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00363917
Associated disease	-
Phenotype details	At the age of 36 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<12y
Phenotype/Onset	visual effects noted for the first time
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