Clinical and Genetic Profile of Leber's Hereditary Optic Neuropathy in a Cohort of Patients From a Tertiary Eye Care Center

Abstract

Purpose: To identify and describe the clinical profile at presentation in patients diagnosed as having Leber's hereditary optic neuropathy with primary and secondary mutations and correlate with treatment. Methods: A review of electronic medical records from January 2016 to December 2020 for proven cases of Leber's hereditary optic neuropathy was conducted. A total of 157 patients with clinically suspected Leber's hereditary optic neuropathy (143 males and 14 females) underwent genetic testing and 55 were found to have a mutation for Leber's hereditary optic neuropathy. Data of 55 consecutive patients were retrieved and analyzed for their clinical profile, investigations, mutations identified, treatment, and outcome. Results: All 55 patients were male, and the mean age was 23.80 ± 9.90 years (range: 9 to 53 years). The median duration of symptoms before the first physician examination was 6 months. The mean duration between the first hospital visit and genetically proven diagnosis of Leber's hereditary optic neuropathy was 9.03 ± 19.61 months (median: 2 months). More than half of the patients (n = 32; 58.2%) presented with severe to profound vision impairment in the better eye and 72.7% (n = 40) in the worse eye. Bilateral temporal disc pallor was more frequent in 38.2% (n = 21) and 36.4% (n = 20) had bilateral optic atrophy. Primary single mutations were detected in 61.81% (n = 34) and secondary mutations were detected in 38.2% (n = 21). The most common mutation was G11778A. One novel secondary mutation (A13615C) was identified in the cohort. Idebenone was used for treatment in 15 patients, and half of them (n = 8) showed an improvement in vision at 2 to 7 months of follow-up. Conclusions: The current cohort is the largest study to date in an Indian population that has analyzed the clinical presentations and mutations of Leber's hereditary optic neuropathy. G11778A was the most common primary mutation and several secondary mutations were identified. A delay in referral, inadequate compliance, and cost of care contributed to the outcomes. [ J Pediatr Ophthalmol Strabismus . 2022;59(5):344–349.]