Phenotype #0000054845

Individual ID	00075070
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography; y24: visual acuity 0.065, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea).
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	unknown
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
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