Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000299933 Individual ID 00407803 Associated disease - Phenotype details night blindness, field constriction (early childhood), visual acuity 30/100 (8 y), progressive loss of visual acuity; best corrected visual acuity right, left eye: 1/50, 1/50, refractive error: emmetropic, visual field right // left eye: residual temporal field at 50–60deg, no central field (III/4e), electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: subcapsular cataract (bilateral), optic nerve atrophy, central areolar retinal pigment epithelium and choroidal atrophy; circular bone-spicule hyperpigmentation in the midperiphe Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-08 20:30:05 +02:00 (CEST) Date last edited N/A

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