Global Variome shared LOVD

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Phenotype #0000299941 Individual ID 00407811 Associated disease - Phenotype details loss of visual acuity (early childhood), diagnosis LCA (2 y), night blindness; visual acuity: 10/200 // 10/200 (23 y); best corrected visual acuity right, left eye: light perception, hand movements, refractive error right, left eye: +3.0, +3.0, visual field right // left eye: not possible , electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: slight posterior subcapsular cataract (bilateral), pale optic nerve, severely narrowed retinal vessels, choroidal atrophy with diffuse retinal pigment epithelium defects, and peripheral bone spicule hyperpigmentation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination 33y (33 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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