MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY

Leber's hereditary optic neuropathy (LHON) is characterized by subacut e loss of central vision due to bilateral optic nerve atrophy accompan ied by several nonspecific clinical findings. The only pathognomonic f eature is its strictly maternal inheritance. It was therefore impossib le to establish the diagnosis in patients with no known affected matri linear sibs, until several mutations in the mitochondrial DNA (mtDNA) were discovered in relation to LHON. The authors describe the case his tories and the occurrence of six mtDNA mutations in eight presumed sin gleton LHON patients and discuss the clinical and genetic implications of the results.