Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy

Abstract

In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

Keywords

• Han Chinese
• Leber's hereditary optic neuropathy
• Mitochondrial DNA
• m.14484T>C mutation