Global Variome shared LOVD

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

Phenotype #0000297845 Individual ID 00405296 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/22, 20/40, refraction right/left eye: -1.00DS, -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: 1,3 / 1 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - 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.