Global Variome shared LOVD

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

Phenotype #0000299938 Individual ID 00407808 Associated disease - Phenotype details progressive field constriction, night blindness, impairment of visual acuity (early childhood); visual acuity still “sufficient” at age 20 y; best corrected visual acuity right, left eye: hand movements, light perception, refractive error right, left eye: -3.0, -2.25, visual field right // left eye: right eye concentric constriction to 1deg (V/4e), electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: posterior subcapsular cataract (bilateral), optic nerve atrophy, vessel attenuation, macular retinal pigment epithelium atrophy, peripheral retinal pigment epithelium atrophy, and hyperpigmenta Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination 69y (69 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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