Global Variome shared LOVD

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Phenotype #0000297995 Individual ID 00405472 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.3 / 0.3, electrooculography Arden ratio right/left eye: 1.3 / (normal) 1.3, right eye fullfield electroretinography: photopic normal latency and amplitude, scotpic normal latency, reduced amplitude; multifocal electroretinography: reduced central amplitudes / left eye fullfield electroretinography: photopic normal latency and amplitude, scotpic normal latency, reduced amplitude; multifocal electroretinography: reduced central amplitudes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 26y (26 years) Age/Diagnosis 24y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-18 12:25:32 +01:00 (CET) Date last edited N/A

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