[DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital].

PURPOSE: To learn the clinical value of DNA diagnosis for Leber's hereditary optic neuropathy (LHON), we reviewed the results of DNA diagnosis performed at Keio University Hospital. METHODS AND PATIENTS: Included were 224 patients, 87 patients at Keio University Hospital and 137 patients from other clinics, with bilateral optic neuropathy who were suspected of having LHON. With informed consent, the 3460, 9804, 11,778, 13,730, and 14,484 mutations of mitochondria DNA (mt-DNA) were examined form 1990 to 1998. Percentage of male patients, age at onset of the disease, and percentage of familial history were compared between patients with and without the mutations. The clinical diagnosis at the time of DNA analysis were examined in patients without the mutation. RESULTS: Seventy two(32%) of the 224 patients had one of the five mtDNA mutations, 63(88%) patients had the 11,778 mutation, 6(8%) had the 14,484 mutation, and 3(4%) had the 3460 mutation. In 72 patients with one of the LHON mutations, 89% of the patients were male, the average age of the disease onset was 24.3 years, and 42% of the patients had a familial history of the disease. Eighty (53%) of 152 patients who did not have one of the 5 mutations were diagnosed as having bilateral optic atrophy with unknown causes. CONCLUSION: Although DNA diagnosis of LHON is a useful clinical test, we must know the clinical characteristics of the disease, before taking advantage of this analysis.