Global Variome shared LOVD

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

Phenotype #0000298229 Individual ID 00405732 Associated disease - Phenotype details significant visual loss in both eyes at the age of 20 years; fundus: bilateral retinal pigment epithelium irregularities in the posterior pole with scattered yellowish flecks; neurosensory retinal detachment with subretinal fluid in the left eye on an optical coherence tomography image Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite autosomal recessive bestrophinopathy Age/Examination - Age/Diagnosis - Age/Onset 57y Phenotype/Onset decreased visual acuity left eye for 2 months Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-21 14:26:30 +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.