Phenotype #0000300087

Individual ID	00407957
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/300, 20/400, refraction right/left eye: +4.5 / +5.25, maculae: bilateral pseudocoloboma, electroretinography: not performed, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target); +T denotes small temporal island of vision separated from the central residual island) right/left eye: 3+T / 5+T, foveal thickness (um) right/left eye: 96 / 83
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	early onset retinal degeneration
Age/Examination	9y (9 years)
Age/Diagnosis	1y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-11 15:08:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD