Phenotype #0000054876

Individual ID	00075101
Associated disease	STGD1
Phenotype details	Stargardt disease; Bilateral, and roughly symmetrical, central regions of chorioretinal atrophy measuring 3 disk diameters, accompanied by prominent pigment deposits at the level of the retinal pigment epithelium. There were numerous yellow flecks in the posterior poles of both eyes, separated from the macular lesions by a zone of relatively normal appearing tissue.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	progressive decline in visual acuity
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