Ophthalmic Genetics | 2021
Leber’s Hereditary Optic Neuropathy with visual recovery caused by two rare mutations
Abstract
Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder that causes bilateral optic neuropathy. Three mitochondrial mutations account for approximately 95% of reported cases (1). Some patients with LHON can experience various degree of spontaneous visual recovery, typically those with m.14484 T > C mutation (2). We describe two cases with profound sequential bilateral visual loss and subsequent dramatic visual recovery within 18 months. In both cases, uncommon mitochondrial mutations were found: one patient harboured a novel mitochondrial mutation and another had a mutation previously linked to LHON. These cases highlight the need for whole mitochondrial genome sequencing in patients with bilateral optic neuropathy who experience spontaneous visual recovery as LHON is the only known entity that can cause spontaneous visual recovery months after visual loss.