Global Variome shared LOVD

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Phenotype #0000299935 Individual ID 00407805 Associated disease - Phenotype details night blindness, field constriction (early childhood), visual acuity 40/100 (12 y), progressive loss of visual acuity and color vision deficiency; best corrected visual acuity right, left eye: light perception, hand movements, refractive error: emmetropic, visual field right // left eye: concentric constriction to 5deg (V/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 dense bone spicule hyperpigmentation in the midperiphery Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination 27y (27 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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