Global Variome shared LOVD

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Phenotype #0000297836 Individual ID 00405287 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/22, 20/32, refraction right/left eye: -0.50DS /-1.25DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 1 / 1.1 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset <5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-16 16:35:27 +01:00 (CET) Date last edited N/A

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