Global Variome shared LOVD

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Phenotype #0000295782 Individual ID 00403035 Associated disease - Phenotype details visual acuity (Snellen) /refraction: OD 20/80 +1.25DS/-1 @ 40 deg, OS 20/120 +1.25DS/0.75@ 130 deg, no angle closure glaucoma, fundoscopy: widespread RPE irregularities and subretinal deposits, fluorescein angiography: not done, electroretinography (ERG): pattern ERG amplitudes mildly reduced; rod and cone full-field ERGs delayed and reduced, electro-oculogram:EOG light rise profoundly reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal-recessive bestrophinopathy (ARB) Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-02-15 23:44:26 +01:00 (CET) Date last edited N/A

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