Global Variome shared LOVD

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Phenotype #0000295785 Individual ID 00403038 Associated disease - Phenotype details visual acuity (Snellen) /refraction: OD/OS 20/20 at presentation deg, angle closure glaucoma, fundoscopy: bilateral macular edema with white subretinal deposits in the midperiphery, fluorescein angiography: early patchy hyperfluorescence, electroretinography (ERG): severely reduced pattern ERG; rod and cone full-field ERGs reduced, electro-oculogram:EOG light rise profoundly reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal-recessive bestrophinopathy (ARB) Age/Examination 28y (28 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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