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

Abstract

Leber’s hereditary optic neuropathy (LHON) is an inher‐ ited 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 causa‐ tive 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 prog‐ nosis 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]. Herein, we report a point mutation in the ND6 gene that has not been identified as a causative gene for LHON. This patient is the first LHON case with a new phenotype in the m.14465G > A mutation within the ND6 gene. Case report