Bestrophinopathy, autosomal recessive is a rare genetic condition that mainly affects the eyes. It involves loss of central vision, which means that you cannot see in detail or see very clearly. Individuals are usually farsighted, meaning they have trouble seeing things that are close. They may have a buildup of pressure inside the eye, reduced vision in one eye, swelling of the eye, problems lining the eyes up with each other, and trouble seeing in color.
Bestrophinopathy, autosomal recessive is inherited (passed through families) in an autosomal recessive manner. Autosomal recessive means that an individual must inherit two copies of the changed (mutated) gene, one from each parent, in order to have the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of bestrophinopathy, autosomal recessive, each child has a one in four chance (25%) of having the condition.
Bestrophinopathy, autosomal recessive usually appears in individuals before the age of 20. It can also appear up to age 50, though this is less likely. The diagnosis of this condition can be made clinically by looking at symptoms, and the treatments can vary depending on which symptoms are present. Some of the problems with the eyes can be corrected with surgery, while others can be treated with medication. Individuals with this condition should receive regular eye examinations to help prevent the development of symptoms as much as possible.
If you or a family member has been diagnosed with bestrophinopathy, autosomal recessive, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 18, 2018