Global Variome shared LOVD

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

Phenotype #0000297837 Individual ID 00405288 Associated disease - Phenotype details best corrected visual acuity right/left eye: HM, 20/400, refraction right/left eye: not available, not available, 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, indocyanine green angiography: permeability increased, hyperfluorescent spots, electrooculography Arden ratios right/left eye: not available 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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