Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000297850 Individual ID 00405301 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/100, 20/50, refraction right/left eye: +2.25DS, +3.25DS, 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, indocyanine green angiography: vessel dilatation, hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,2 / 1,1 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 16y 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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