Autosomal recessive bestrophinopathy

Content sourced from Wikipedia, licensed under CC BY-SA 3.0.

Autosomal recessive bestrophinopathy (ARB) is a very rare inherited eye disorder. It mainly causes central vision loss and retinal problems. People with ARB often have abnormal eye tests, including no light rise on electrooculography and reduced responses on electroretinography. Other signs can include scattered retinal flecks, fluid buildup in the macula, farsightedness, and thinning of the macula; angle-closure glaucoma can occur in some cases. ARB is caused by autosomal recessive mutations in the BEST1 gene on chromosome 11. It has been described in fewer than 20 individuals from about 10 families worldwide, including a report from Sri Lanka describing the country’s first genetically confirmed cohort. The condition usually begins in childhood and lasts a lifetime. There is no known prevention, and treatment focuses on managing vision problems and supporting daily activities.