boliasi

Boliase, also known as Boliase disease, is a rare genetic disorder characterized by the progressive loss of vision, often leading to blindness. It is caused by mutations in the RPE65 gene, which is responsible for encoding a protein involved in the maintenance of the retina's photoreceptor cells. The condition primarily affects males, with symptoms typically appearing in childhood or adolescence. The most common symptoms include night blindness, peripheral vision loss, and eventually, total blindness. Boliase is inherited in an X-linked recessive manner, meaning that a mutation in the RPE65 gene on the X chromosome can cause the disease in males, while females may be carriers without showing symptoms. There is currently no cure for Boliase, but treatment options focus on managing symptoms and slowing the progression of the disease. These may include low-vision aids, gene therapy, and other experimental treatments. Genetic counseling and screening are important for families with a history of the condition to identify carriers and plan for future generations.