Dominant Optic Atrophy (DOA) is a genetic disorder characterized by progressive degeneration of the optic nerve that leads to visual impairment. It is the most common hereditary optic neuropathy, affecting both males and females worldwide.
Individuals with DOA usually develop symptoms during childhood or adolescence, which gradually worsen with time. The main symptom is a gradual loss of vision, typically beginning with a decreased visual acuity and a reduced ability to see colors. Hence, the affected individuals may experience difficulty distinguishing between red and green hues. Other common symptoms may include a restricted visual field, reduced contrast sensitivity, and an impaired ability to see details.
DOA is typically inherited in an autosomal dominant manner, meaning that a person inherits the affected gene from only one parent to develop the disorder. However, in some cases, it can be inherited in an autosomal recessive or even an X-linked pattern. Molecular genetic testing can detect mutations in genes associated with DOA, such as OPA1 and OPA3.
Currently, there is no cure for DOA, and treatment aims at managing its symptoms. This may involve the use of visual aids, such as glasses or contact lenses, to improve visual acuity or tinted lenses to enhance color perception. Regular follow-up visits with ophthalmologists are essential to monitor disease progression and adjust interventions accordingly.
In summary, Dominant Optic Atrophy is a genetic condition characterized by the progressive degeneration of the optic nerve, resulting in visual impairment, particularly affecting visual acuity and color perception.
