Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
X Zhou, H Zhang, F Zhao, Y Ji, Y Tong, J Zhang… - Molecular genetics and …, 2010 - Elsevier
We report here the clinical, genetics and molecular characterization of a five-generation Han
Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family
exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10
males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from
profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese
family is much higher than those in many families with LHON worldwide. The age-at-onset …
Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family
exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10
males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from
profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese
family is much higher than those in many families with LHON worldwide. The age-at-onset …
