Phenotype #0000259290

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00363952
Associated disease	-
Phenotype details	At the age of 53 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.01 OD and 0.05 OS.
Diagnosis/Initial	Stargardt disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	STGD1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	30y
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