Phenotype #0000055793

Individual ID	00076018
Associated disease	STGD1
Phenotype details	Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 31: OD 20/50, dark choroid; y34: visual acuity 0.085, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea).
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	visual loss
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