A new phenotype of MT-ND6 gene mutation for Leber’s hereditary optic neuropathy

Excerpt

Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by acute or subacute, painless, sequential or simultaneous, bilateral vision loss. LHON is caused by point mutations in mitochondrial DNA and is inherited maternally. The three most common causative mutations, m.11778G > A (MT‑ND4), m.14484 T > C (MT‑ND6), and m.3460G > A (MT‑ND1), are implicated in up to 90% of LHON patients [1, 2]. The visual prognosis of LHON is poor [3], though spontaneous recovery can occur [4‐7]. The rate of spontaneous recovery varies based on location of the point mutation [4‐7]. Patients with an m.14484 T > C gene mutation reportedly have a greater chance of spontaneous recovery (37–58%), and those with the most common type of mutation, m.11778G > A, have only a 4–25% spontaneous recovery rate [4‐6]. …