ACO2-related optic atrophy with or without extraocular features

ACO2-related optic atrophy with or without extraocular features is a condition where the optic nerve is affected due to genetic changes in the ACO2 gene, which codes for a mitochondrial protein. In this condition, changes in the ACO2 gene can lead to the degeneration of the optic nerves, which may cause a reduction in vision. Because the ACO2 gene is important for normal mitochondrial function, people with this condition may experience additional features beyond vision loss. Extraocular characteristics can include issues with coordination, such as ataxia, stiffness and difficulty with movement like spastic paraplegia, as well as other central nervous system abnormalities, neurodevelopmental challenges, and changes in the retina. This range of symptoms reflects how genetic changes impacting mitochondria can affect multiple organs and systems.

People with this condition primarily experience optic atrophy, which affects the optic nerve responsible for vision. Along with vision loss, extraocular features described include ataxia, spastic paraplegia, central nervous system changes, neurodevelopmental issues, and retinal degeneration. This mix of symptoms means that both vision and other parts of the body that rely on proper energy production from mitochondria can be involved.

ACO2-related optic atrophy with or without extraocular features is caused by changes in the ACO2 gene. These genetic variants can be present on one copy of the gene (monoallelic) or both copies (biallelic). Since the ACO2 gene is responsible for a mitochondrial protein, the gene changes lead to abnormal mitochondrial function and morphology that affect not only the optic nerve but potentially other organ systems.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.