Global Variome shared LOVD

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

Phenotype #0000299947 Individual ID 00407817 Associated disease - Phenotype details night blindness (6 y); nystagmus from birth; loss of visual acuity to 40/100 (6 y), peripheral field constriction(12 y); best corrected visual acuity right, left eye: 10/100, 10/100, refractive error right, left eye: +2.5, +1.5, visual field right // left eye: concentric constriction to 5–8deg (III/4e), anterior segment and fundus: no da Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination 23y (23 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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