Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to <i>OPA1</i> mutation status.

Abstract

Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in <i>OPA1.</i> Patients with mutations in <i>OPA1</i> were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an <i>OPA1</i> mutation. This observation, as well as similar frequencies of central scotomas in the groups with and without mutations in <i>OPA1</i>, underscores the need for genetic testing to establish an <i>OPA1</i> genetic diagnosis.