Global Variome shared LOVD

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

Phenotype #0000297838 Individual ID 00405289 Associated disease - Phenotype details best corrected visual acuity right/left eye: 20/400, 20/400, refraction right/left eye: not available, not available, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: not available, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: not available Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset 30y 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.