Features include always present findings: Dyschromatopsia, Damage to the optic nerve (optic atrophy), Visual impairment, and Central scotoma; and sometimes findings: Ataxia, Difficulty walking (gait disturbance), and Spasticity. 22 total HPO annotations.

OPA1 encodes OPA1 mitochondrial dynamin like GTPase (960 aa). Dynamin-related GTPase that is essential for normal mitochondrial morphology by mediating fusion of the mitochondrial inner membranes, regulating cristae morphology and maintaining respiratory chain function. Highest expression in Cells EBV-transformed lymphocytes (41.7 TPM) and Cells Cultured fibroblasts (33.7 TPM).

Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy is associated with mutations in the OPA1 gene on chromosome 3.

The OPA1 protein participates in Cellular response to mitochondrial stress pathway.

OPA1 is classified as a druggable target (Enzyme and Transporter categories) with score 0.0.

Genetic testing for OPA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.

236 publications have been identified in PubMed for optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (16%), and Review / Meta-Analysis (15%).