DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY

Introduction Leber's hereditary optic neuropathy (LHON) is a bilateral optic atrophy, more common in males than in females. No specific clin ical feature or biologic test exists to evidence LHON. We report here the case of a man affected with a nonfamilial bilateral optic atrophy, whose diagnostic remained uncertain for 17 years. Patient and methods This patient was hospitalized at the age of 27 in order to establish diagnosis. He has an ophthalmologic examination once a year. He was al so affected with chronic renal failure. Detection of the G to A mutati on at position 11778 of the DNA was assessed by restriction enzyme dig estion of amplified genomic DNA. Results The 11778 mitochondrial DNA m utation was evidenced, in homoplasmic condition in white blood cells. Discussion Molecular biology allows to substantiate the diagnosis of L HON and is relatively easy and cheap. Assessment of mitochondrial DNA provides a useful diagnostic tool for nonfamilial or atypical cases of LHON.