Global Variome shared LOVD

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

Phenotype #0000297842 Individual ID 00405293 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/60, 20/50, refraction right/left eye: +1.25DS, +2.50DS, anterior segment both or right/left eye: angle-closure glaucoma / angle closure, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fibrosis / 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, peripheral vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 1,1 / Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 26y (26 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.