Phenotype #0000301053

Individual ID	00408935
Associated disease	-
Phenotype details	Welldemarcated central foveal atrophy , perifoveal hyperautofluorescent ring and irregular hyperautofluorescence outside the vascular arcade. An arrest in foveal development and loss of outer retinal structure including outer nuclear layer, external limiting membrane, ellipsoid zone and interdigitation zone at the fovea.
Diagnosis/Initial	leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	18m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD