A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

摘要: The Tas2 and Vic2 Australian families are affected with a variant of Leber hereditary optic neuropathy (LHON). risk developing the shows strict maternal inheritance, opthalmological changes in family members characteristic LHON. However, contrast to common form disease, these two show high frequency vision recovery. To ascertain mitochondrial genetic etiology LHON families, both (a) nucleotide sequences seven genes encoding subunits respiratory-chain complex I (b) cytochrome b gene were determined for representatives families. Neither carries any previously identified primary mutations: ND4/11778, ND1/3460, or ND1/4160. Instead, carry multiple genes, which produce conservative amino acid changes. From available sequence data, it is inferred that phylogenetically related each other cluster mutations have been hypothesized play etiological role. sequencing analysis establishes do not carrymore » mutations. There hypotheses account unusual One possibility there mutation within genome but at site was included analyses. Alternatively, disease may result from cumulative effects secondary less severe phenotypic consequences. 29 refs., 3 figs., tabs.« less