Phenotype #0000057668

Individual ID	00077893
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	ABCA4-related retinal disease; y28 visual acuity was 0.6 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.47mm^2 in the right eye. y35, visual acuity was 1.3 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.47mm^2 in the right eye.
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	24y
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