Global Variome shared LOVD

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

Phenotype #0000298003 Individual ID 00405480 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/50, 20/200, refraction (diopters), spherical/cylinder:+4.25/-1.50, +4.75/-2.00, electrooculography Arden ratio:1.1, electroretinography scotopic / photopic: not performed / not performed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 58y (58 years) Age/Diagnosis - Age/Onset 39y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-18 13:09:31 +01:00 (CET) Date last edited N/A

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