Genetic analysis in Leber's hereditary optic neuropathy using the comparative genomic hybridization technique

Background: Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON) but it has not been confirmed. The aim of the present study was to investigate chromosomal abnormalities associated with LHON. Methods: In a prospective study, comparative genomic hybridization (CGH) was used to analyse genetic changes in five patients with LHON with an I 1778 mitochondrial DNA mutation and three asymptomatic maternal relatives. Results: There were no significant genetic copy number alterations detected in the five visually affected patients or in the three unaffected maternal relatives as compared to unrelated normal controls. Conclusion: The CGH technique did not detect any chromosomal abnormalities in LHON patients or in unaffected relatives. Nuclear gene involvement, however, cannot be ruled out.