Dominant optic atrophies (DOAs) are a group of inherited eye disorders characterized by progressive degeneration of the optic nerves, leading to vision loss. The condition is referred to as dominant because it follows an autosomal dominant pattern of inheritance, meaning that a person only needs to inherit one affected copy of the gene from either parent in order to develop the disease.
In individuals with DOAs, the optic nerves, which transmit visual information from the eyes to the brain, gradually deteriorate over time. This results in a gradual loss of vision, typically beginning during childhood or early adulthood. The severity of vision impairment can vary among affected individuals, ranging from mild to severe.
DOAs can be caused by mutations in several genes, with the most common genetic cause being mutations in the OPA1 gene. This gene is responsible for producing a protein that plays a critical role in maintaining the health and function of the optic nerves. When mutations occur, the protein may not function properly, leading to the progressive degeneration of the optic nerves.
Symptoms of DOAs include decreased visual acuity, color vision abnormalities, and central or peripheral visual field defects. The condition is diagnosed through a combination of clinical examination, family history, and genetic testing.
While there is currently no cure for DOAs, treatment focuses on managing symptoms and supporting visual function. This may involve the use of visual aids, such as glasses or contact lenses, and low-vision rehabilitation to maximize remaining vision. Close monitoring by an eye specialist is essential to detect any progression of the disease and adjust treatment accordingly.
