Phenotype #0000299939

Individual ID	00407809
Associated disease	-
Phenotype details	field constriction, night vision problems; loss of visual acuity (4 y); no nystagmus; best corrected visual acuity right, left eye: 20/100, 10/100, refractive error right, left eye: +0.5, +0.75, visual field right // left eye: concentric constriction to 20–30deg // 40deg (V/4e), electroretinogram: residual scotopic and Pho 30Hz flicker responses (reduced amp, increased IT), pathological OPs, mfERG: foveal response more affected than peripheral, (reduced amp, increased IT), anterior segment and fundus: slight subcapsular cataract (bilateral), partial optic nerve atrophy, vessel attenuation, increased macular retinal pigment epithelium granularity, peripheral retinal pigment epithelium atrophy, and mild hyperpigmentati
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis/early-onset severe retinal dystrophy
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-08 20:30:05 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD