OPA1-related optic atrophy with or without extraocular features

OPA1-related optic atrophy with or without extraocular features is a mitochondrial condition caused by variants in the OPA1 gene. These gene changes, which can affect one or both copies of the gene, lead to problems with the structure and function of mitochondria, the cell's energy producers. A key feature of the condition is optic atrophy, which often results in progressive visual difficulties such as loss of color vision and central scotoma. Because the OPA1 gene plays a vital role in maintaining mitochondrial health, changes in this gene can also affect other body systems. People with this condition may experience extraocular features including sensorineural hearing impairment, cognitive challenges, problems with peripheral nerves, muscle weakness (myopathy), and exercise-induced lactic acidemia. Additionally, abnormal mitochondrial structure and multiple mitochondrial DNA deletions are also observed in affected individuals.

Common symptoms in people with this condition include problems with vision such as progressive visual loss, central scotoma (a blind spot in the center of vision), and difficulties with color vision. Extraocular symptoms can include progressive sensorineural hearing impairment, cognitive difficulties, peripheral neuropathy (nerve problems), muscle weakness, ragged-red muscle fibers seen in muscle examinations, and exercise-induced lactic acidemia.

This condition is caused by variants in the OPA1 gene. These changes in the gene, which may occur in one or both copies, disrupt the normal function of the mitochondria. Since the OPA1 protein is important for maintaining mitochondrial shape and health, its disruption leads to the symptoms seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.