Autosomal recessive bestrophinopathy
id:
autosomal-recessive-bestrophinopathy-276-6001322
title:
Autosomal recessive bestrophinopathy
text:
Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram. Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and angle-closure glaucoma. It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11, and it has been described in less than 20 individuals fr
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Autosomal_recessive_bestrophinopathy
date created:
date modified:
2023-12-02T00:45:16Z
main entity:
{"identifier":"Q113396116","url":"https://www.wikidata.org/entity/Q113396116"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15