Global Variome shared LOVD

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

Phenotype #0000297312 Individual ID 00404737 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/200, 20/63, fundus findings: right eye subretinal fibrosis, left eye subretinal fibrosis, yellowish deposits, electrooculography Arden ratios: right eye 0.95, left eye 1.18, electroretinography: reduced scotopic and photopic responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-07 14:49:09 +01:00 (CET) Date last edited N/A

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