About Autosomal recessive bestrophinopathy

What is Autosomal recessive bestrophinopathy?

Autosomal recessive bestrophinopathy is a rare genetic disorder that affects the eyes and kidneys. It is caused by mutations in the BEST1 gene, which is responsible for producing a protein called bestrophin. This protein is important for maintaining the normal structure and function of the retina and the kidneys. Symptoms of this disorder include vision loss, kidney failure, and hearing loss.

What are the symptoms of Autosomal recessive bestrophinopathy?

The symptoms of Autosomal recessive bestrophinopathy can vary from person to person, but may include:

-Progressive vision loss

-Retinal pigmentary changes

-Retinal vascular changes

-Retinal detachment



-Macular edema

-Optic nerve atrophy



-Reduced visual acuity

-Reduced color vision

-Reduced contrast sensitivity

-Reduced peripheral vision

-Reduced night vision

-Reduced depth perception

What are the causes of Autosomal recessive bestrophinopathy?

Autosomal recessive bestrophinopathy is caused by mutations in the BEST1 gene. These mutations can be inherited from one or both parents, or can occur spontaneously.

What are the treatments for Autosomal recessive bestrophinopathy?

Currently, there is no known cure for autosomal recessive bestrophinopathy. Treatment focuses on managing the symptoms and preventing complications. This may include regular eye exams, medications to reduce eye pressure, and surgery to improve vision. Other treatments may include lifestyle modifications, such as avoiding activities that may cause further damage to the eyes, and wearing protective eyewear. Genetic counseling may also be recommended for those affected by the condition.

What are the risk factors for Autosomal recessive bestrophinopathy?

1. Having two copies of a mutated BEST1 gene.
2. Having a family history of Autosomal recessive bestrophinopathy.
3. Being of Ashkenazi Jewish descent.
4. Being of North African descent.
5. Being of Middle Eastern descent.
6. Being of Mediterranean descent.

Is there a cure/medications for Autosomal recessive bestrophinopathy?

At this time, there is no cure or medications available for autosomal recessive bestrophinopathy. However, research is ongoing to find treatments and therapies that may help manage the symptoms of this condition.