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OPA1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

OPA1 gene

The OPA1 gene is essential for mitochondrial health, and mutations in this gene are primarily associated with vision loss and various neurological conditions.

Normal Function

The OPA1 gene provides instructions for making a protein found in cells and tissues throughout the body. The OPA1 protein is active in the inner membrane of cell structures called mitochondria, which are the energy-producing centers in cells. Mitochondria are dynamic structures that change shape through processes called fission (splitting into smaller pieces) and fusion (combining pieces). The OPA1 protein helps to regulate the shape of mitochondria by playing a key role in the fusion process.

The OPA1 protein is also involved in oxidative phosphorylation, the process from which cells derive much of their energy. Additionally, the OPA1 protein plays a role in the maintenance of the DNA within mitochondria (mitochondrial DNA or mtDNA) and in controlled cell death (apoptosis).

Health Conditions Related to Genetic Changes

Optic atrophy type 1

At least 240 mutations in the OPA1 gene have been found to cause optic atrophy type 1. This condition typically results in vision loss beginning in childhood that worsens over time. Affected individuals may also have problems with color vision, particularly distinguishing between shades of blue and green.

OPA1 gene mutations lead to problems in mitochondrial function. The mitochondria become misshapen and disorganized, with reduced energy-producing capabilities. Cells that contain these poorly functioning mitochondria are more susceptible to apoptosis. In particular, cells within the retina called retinal ganglion cells die over time. Because the axons of these cells form the optic nerves, the optic nerves break down (atrophy) and cannot transmit visual information to the brain.

Other disorders

About 20 percent of individuals with mutations in the OPA1 gene experience additional health problems alongside vision loss:

  • Optic atrophy type 1 and deafness: Results in both vision and hearing loss.
  • Autosomal dominant optic atrophy (ADOA)-plus syndrome: Involves vision and hearing loss, weakness in eye movement muscles (progressive external ophthalmoplegia), difficulty with balance and coordination (ataxia), nerve disturbances (motor and sensory neuropathy), and skeletal muscle weakness (myopathy).
  • Behr syndrome: The most severe condition caused by OPA1 mutations, characterized by early-childhood neurological problems including optic atrophy, brain dysfunction (encephalopathy), peripheral neuropathy, ataxia, feeding difficulties, and developmental delay.

Other Names for This Gene

  • dynamin-like 120 kDa protein, mitochondrial
  • FLJ12460
  • KIAA0567
  • MGM1
  • mitochondrial dynamin-like GTPase
  • NPG
  • NTG
  • OPA1_HUMAN

Frequently Asked Questions

While OPA1 mutations primarily cause isolated vision loss, approximately 20% of affected individuals develop a more complex phenotype known as OPA1-plus syndrome. Because the OPA1 protein is critical for mitochondrial maintenance in all tissues, these patients can develop extra-ocular neurological complications later in life, most commonly bilateral sensorineural hearing loss starting in adolescence or early adulthood, chronic progressive external ophthalmoplegia (weakness of eye muscles), balance instability (ataxia), and peripheral neuropathy.
Yes. Because OPA1 mutations impair mitochondrial energy production, retinal ganglion cells become unusually sensitive to secondary metabolic stress. Patients are strongly advised to avoid all forms of tobacco smoke and excessive alcohol intake, both of which are documented triggers for accelerated vision decline. Additionally, clinicians must exercise extreme caution with medications known to be toxic to mitochondria, such as certain antibiotics (e.g., linezolid, aminoglycosides) and anti-tuberculosis agents like ethambutol.
lthough both cause mitochondrial optic nerve damage, they differ in genetic inheritance and clinical progression. OPA1 is located on nuclear DNA (chromosome 3) and is inherited in an autosomal dominant pattern from either parent, causing an insidious, slowly progressive symmetric vision loss in early childhood. By contrast, LHON is caused by mutations in mitochondrial DNA (mtDNA), is inherited exclusively through the maternal line, and typically causes sudden, severe, painless vision loss that develops subacutely in young adult males.
Vision changes typically begin insidiously during early childhood, often between the ages of 4 and 10, and are frequently discovered during routine school vision tests. Early symptoms include progressive, painless blurring or reduction of central vision in both eyes and impaired color perception, particularly difficulty distinguishing shades of blue and green (tritanopia). Children may also show central blind spots (cecocentral scotomas) and pale optic nerve heads upon ophthalmologic exam.
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.

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