Leber Optic Atrophy (LOA), also known as Leber's hereditary optic neuropathy (LHON), is a rare genetic disorder that primarily affects the optic nerve, leading to vision loss or impairment. It is named after the German physician Theodore Leber, who first described the condition in 1871.
LOA is inherited maternally, with the mutated genes being located in the cell’s mitochondria – known as mitochondrial DNA (mtDNA). As a mitochondria-related disorder, it predominantly affects males, although females can also be affected.
Symptoms of Leber Optic Atrophy usually manifest in the late teenage or early adult years, typically between the ages of 15 and 35. The most common initial symptom is a sudden, painless, and rapidly progressive bilateral loss of central vision. This central vision loss affects visual acuity and color vision, impairing the ability to see details and distinguishing between colors. Peripheral vision is largely preserved in most cases, which allows individuals to still navigate their surroundings to some extent.
The exact mechanisms that cause these optic nerve damages and vision loss in LOA are not fully understood. However, it is believed that a cascading chain of events occurs, leading to mitochondrial dysfunction and thus the death of optic nerve cells.
There is currently no cure for Leber Optic Atrophy, and treatment mainly focuses on providing supportive measures and managing any associated symptoms. Genetic counseling can be beneficial for affected individuals and their family members to understand the inheritance patterns and potential risks of passing the condition to future generations. Research into potential treatments and genetic therapies for LOA is ongoing, offering hope for the future.
