Meyahealth
HomeGeneticsGeneOPA3 gene
Back to Gene
OPA3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

OPA3 gene

The OPA3 gene plays a critical role in mitochondrial structure and function, with mutations leading to conditions characterized by vision loss and neurological impairment.

Normal Function

The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in mitochondria, the energy-producing centers of cells. It is thought to play a role in the organization of the shape and structure of mitochondria and in controlled cell death (apoptosis).

Health Conditions Related to Genetic Changes

Autosomal dominant optic atrophy and cataract

At least four mutations in the OPA3 gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision in both eyes, often beginning at birth. People with this condition have degeneration (atrophy) of the optic nerves and clouding of the lenses of the eyes (cataracts). Some individuals also experience hearing loss or movement problems.

These mutations lead to abnormal mitochondrial function, where mitochondria become misshapen and disorganized with reduced energy-producing capabilities. Cells with high energy demands, such as retinal ganglion cells, are particularly susceptible to apoptosis. When these cells die, the optic nerves atrophy, contributing to vision impairment.

Costeff syndrome

At least five mutations in the OPA3 gene have been found to cause Costeff syndrome. This condition is characterized by vision loss due to optic nerve atrophy, delayed development, and movement problems. Costeff syndrome is caused by mutations in both copies of the OPA3 gene, leading to a complete loss of OPA3 protein function. Cells without functional OPA3 protein have abnormally shaped mitochondria and reduced energy production, which likely leads to the death of energy-dependent nerve cells in the brain and the optic nerves.

Other Names for This Gene

  • FLJ22187
  • FLJ25932
  • MGA3
  • MGC75494
  • OPA3 protein
  • OPA3_HUMAN
  • optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

Frequently Asked Questions

If a child or adult has early‑onset vision loss, progressive optic atrophy, cataracts, or unexplained hearing loss, especially if there is a family history of similar eye problems, OPA3 testing may be indicated. Early detection can guide monitoring for neurological symptoms and allow timely interventions.
There is no cure that reverses the optic nerve damage. Management focuses on preserving remaining vision: low‑vision aids, regular ophthalmology exams, cataract surgery when appropriate, and monitoring for retinal changes. Some patients benefit from neuroprotective agents under clinical trials, but standard care remains supportive.
utosomal dominant optic atrophy usually results from a single mutated OPA3 allele and mainly affects vision, with cataracts sometimes present. Costeff syndrome arises from biallelic (both copies) mutations, leading to more severe vision loss, developmental delays, and movement disorders. The inheritance pattern is recessive for Costeff, so both parents may be carriers.
Yes. Because OPA3 mutations can affect mitochondrial function in neurons, periodic neurological exams and MRI of the brain may detect early signs of movement disorders or white‑matter changes, allowing earlier intervention and better quality of life.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ