Phenotype #0000299940

Individual ID	00407810
Associated disease	-
Phenotype details	night blindness; visual-field constriction; impairment of visual acuity (starting age 4 y): 20/100 // 10/100 (6 y) 10/200 // 10/200 (10 y); best corrected visual acuity right, left eye: light perception, 10/200, refractive error right, left eye: +5.0, +6.0, visual field right // left eye: constriction to 5deg small temporal rest (V/4e), electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: posterior subcapsular cataract (bilateral), right eye: coats-like vasoproliferation, midperipheral bone spicule hyperpigmentation
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis/early-onset severe retinal dystrophy
Age/Examination	20y (20 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