Global Variome shared LOVD

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Phenotype #0000295780 Individual ID 00403033 Associated disease - Phenotype details visual acuity (Snellen) /refraction: OD hand movement +1.75/+1.0 @ 110 deg, OS 20/120 +2.25/+0.75 @ 110 deg, angle closure glaucoma, fundoscopy: bilateral widespread RPE, irregularity with small subretinal deposits at the posterior poles, fluorescein angiography: widespread early patchy hyperfluorescence, electroretinography (ERG): reduced rod and cone full-field ERGs, electro-oculogram:absent EOG light rise Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal-recessive bestrophinopathy (ARB) Age/Examination 18y (18 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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