Visual Loss from Leber's Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations.

Abstract

Leber's Hereditary Optic Neuropathy (LHON) is an important hereditary optic neuropathy that typically causes bilateral visual loss, predominantly in male patients. While it usually manifests in young adults, it can uncommonly present in older individuals without a family history, potentially leading to diagnostic confusion. The mechanisms underlying why some individuals with these mutations develop optic neuropathy while others remain asymptomatic are still under investigation. Factors such as heteroplasmy, epigenetic modifications, and environmental triggers, including alcohol consumption, are thought to contribute. However, the exact triggers that convert carriers into symptomatic individuals remain poorly understood, with cigarette smoking and alcohol intake being potential contributors. The purpose of this paper is to describe a 76-year-old patient who experienced, painless bilateral visual loss progressing over 4 weeks. Despite extensive evaluation, including imaging, blood tests, and genetic testing, a mitochondrial mutation (T14484C) associated with LHON was identified. Although LHON is rare, especially in the elderly, and usually presents in younger males, this case highlights the need for clinicians to consider LHON as a potential diagnosis in older patients presenting with unexplained visual loss.