LHON MUTATIONS IN AN OUTBREAK OF OPTIC NEUROPATHY IN CUBA

Since late 1991, over 50,000 Cubans have been diagnosed with optic neu ropathy, peripheral neuropathy, or both. Multiple etiological factors have been proposed as possible causes of the Cuban neuropathy outbreak . Nutritional deficiencies might have a pathogenic role in the outbrea k; the precise etiology, however, is unknown. In May, 1993, we examine d 20 patients in Cuba who were selected by local physicians because of evidence of neuropathy. The clinical features of the patients resembl ed those of Strachan's syndrome, a disorder which has been attributed to nutritional deficiencies. Cuban researchers, as well as internation al collaborators, have investigated the epidemiology and medical featu res of the patients. We proposed that genetic factors might be contrib uting to the susceptibility of some affected individuals. To initiate an investigation of the possible role of Leber's hereditary optic neur opathy associated mutations, we screened leucocyte DNA for 15 mitochon drial DNA (mtDNA) mutations. As we reported previously, we identified two mtDNA mutations at nucleotides 3460 and 11778 in two Of 11 proband s with optic neuropathy. This data set is too small to form statistica lly significant conclusions, however, it suggests that mtDNA mutations might play a role in some of the Cubans with optic neuropathy. (C) 19 94 Wiley-Liss, Inc.