Global Variome shared LOVD

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Phenotype #0000297624 Individual ID 00405067 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.01/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.2/1.1, optical coherence tomography right/left eye: neurosensory retinal detachment/cystoid macular edema, disappearance of the retinal pigment epithelium; angle-closure glaucoma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy (ARB) Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 34y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-15 11:38:14 +01:00 (CET) Date last edited N/A

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