Phenotype #0000057678

Individual ID	00077903
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	ABCA4-related retinal disease; y48 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.49mm^2 in the left eye. y59, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.49mm^2 in the left eye.
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	22y
Phenotype/Onset	visual loss
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