Vitamin status and mitochondrial DNA mutations in patients with incomplete recovery from an epidemic optic neuropathy in Cuba

Abstract

From 1991 until early 1994, nearly 51,000 Cubans were afflicted by an outbreak of optic neuropathy (ON) and peripheral neuropathy (PN). Nutritional deficiencies, toxins, genetic factors, and infectious agents have been investigated for their pathogenic role. Previously, we reported two probands harboring Leber's hereditary optic neuropathy (LHON)-associated mitochondrial (mtDNA) mutations. We examined nine additional patients, selected by Cuban physicians, because of evidence of incomplete recovery from ON, and studied the role of LHON mutations and vitamin status. All of the patients had received multivitamin therapy for varying time. We performed ophthalmological and neurological examinations, analyzed blood levels of vitamins Bi, B6, and B12, and screened leukocyte DNA for primary mtDNA mutations associated with LHON using standard assays. Three of the nine patients had low blood vitamin levels, indicating that vitamin deficiencies might be associated with persistent ON in some Cuban patients. None of ...