Phenotype #0000056171

Individual ID	00076396
Associated disease	STGD1
Phenotype details	Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss; y24: visual acuity 0.09, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea).
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<20y
Phenotype/Onset	unknown
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