Global Variome shared LOVD

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

Phenotype #0000297148 Individual ID 00404558 Associated disease - Phenotype details measurements right / left eye: visual acuity (refractive error): 0.6 (+1.00/ - 0.50, 125deg) / 0.1 (+1.50/ - 0.50, 13deg), electroretinography, photopic: normal / normal, electroretinography, scotopic: abnormal / abnormal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Yellowish depositions at edge of lesions, mild patchy midperipheral retinal atrophy with small yellow- white spots, cystoid macular edema left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-03 14:07:53 +01:00 (CET) Date last edited N/A

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