3 SUBGROUPS OF PATIENTS FROM THE UNITED-KINGDOM WITH LEBER HEREDITARYOPTIC NEUROPATHY

Variations in classic Leber hereditary optic neuropathy (LHON) include recovery of vision and association with other neurological abnormalit ies. Sixteen multi-generational Australian families originating from t he United Kingdom with LHON were studied by the one examiner, using th e same protocol. In particular, recovery of vision and other neurologi cal abnormalities were noted. One very large family (Tas2) and one sma ll family (Vic2) were found to have frequent recovery of vision (50% o f patients). They both had the 14484 T to C mutation in their mitochon drial DNA (mtDNA), One apparently unique family (Qld1) was found to ha ve frequent juvenile encephalopathy and peripheral neurological signs. They had the 4160 T to C and 14484 T to C mutations. The remaining 13 families rarely showed visual recovery or associated neurological abn ormalities, They had the common 11778 G to A or the 3460 G to A mutati ons. Thus mitochondrial genotypes in LHON are associated with variable phenotypes.