Global Variome shared LOVD

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Phenotype #0000298008 Individual ID 00405485 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/63, refraction (diopters), spherical/cylinder:+4.25/-0.75, +4.00/-0.75, electrooculography Arden ratio:1.0, electroretinography scotopic / photopic: reduced / reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset <18y 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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