Features include very common findings: Visual impairment and Damage to the optic nerve (optic atrophy); and common findings: Progressive external ophthalmoplegia, Proximal muscle weakness, Inner ear hearing loss (sensorineural hearing impairment), and Color vision defect and others. 54 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).

Autosomal dominant optic atrophy, classic form 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 autosomal dominant optic atrophy, classic form has been reported in the published literature.

Phenotype severity distribution: 2 very common features, 9 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

4 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 2 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.

97 publications have been identified in PubMed for autosomal dominant optic atrophy, classic form. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (25%), and Epidemiology / Natural History (16%).