Global Variome shared LOVD

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Phenotype #0000299942 Individual ID 00407812 Associated disease - Phenotype details night blindness (early childhood); slowly progressive impairment of visual acuity and field constriction (17 y); best corrected visual acuity right, left eye: 10/200, 10/100, refractive error right, left eye: -1.25, +0.5, visual field right // left eye: concentric constriction to 5deg (III/4e), temporal field of 20deg, electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: slight subcapsular cataract (bilateral), slight narrowing of vessels, macular scars with retinal pigment epithelium and choroidal atrophy, and peripheral retinal pigment epithelium atrophy with 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 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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