Nutritional deficiency amblyopia or Leber's hereditary optic neuropathy?

Abstract

A 45-year-old man presented with progressive bilateral painless central visual loss. He had a history of alcohol abuse and no family history of visual impairment. The patient was initially diagnosed as having nutritional deficiency amblyopia (NDA), but visual deterioration continued despite a balanced diet and high potency B vitamin supplementation. Ultimately, mitochondrial DNA analysis was positive for the 11778 mutation of Leber's hereditary optic neuropathy (LHON).

Key Words:

• Leber's hereditary optic neuropathy
• nutritional deficiency amblyopia
• tobacco-alcohol amblyopia
• mitochondrial DNA mutations