1、1会计学Leber遗传性视神经病变遗传性视神经病变Hypothetical example of LHON pedigreeLHON(Lebers hereditary optic neuropathy)-A disease in which defects in the mitochondrias electron transport chain lead to optic nerve degeneration and blindness.-Mutation in the NADH dehydrogenase subunit 4 gene.Genetics,from Genes to Gen
2、omes,Hartwell et al.,2nd edition.Genetic Testing is now WIDELY accepted as diagnosis for LHONOptic Nerve临床特点临床特点临床特点临床特点Optic nerve head photographs from patients with Leber hereditary optic neuropathy,taken with a fundus cameraONeill EC et al.(2009)The optic nerve head in hereditary optic neuropath
3、iesNat Rev Neurol doi:10.1038/nrneurol.2009.40Photos courtesy of Mr Graeme Black.Leber hereditary optic neuropathy.(a)Optic disc 3 weeks after patient noted reduction in vision;note hyperemia of disc with blurred margins.(b)Retina of uncle;vision lost several years previously.Note pallor of disc par
4、ticularly temporally corresponding to optic atrophy.(c)Normal retina.Photos courtesy of Mr Graeme Black,St Marys Hospital,Manchester.鉴别诊断鉴别诊断鉴别诊断鉴别诊断 Leber青春期青春期10 20 岁发病岁发病,40岁以岁以上发病少上发病少常双眼视力丧失常双眼视力丧失中心暗点中心暗点有家族史有家族史无有效治疗无有效治疗Optic Nerve临床特点临床特点Photos courtesy of Mr Graeme Black.Leber hereditary o
5、ptic neuropathy.(a)Optic disc 3 weeks after patient noted reduction in vision;note hyperemia of disc with blurred margins.(b)Retina of uncle;vision lost several years previously.Note pallor of disc particularly temporally corresponding to optic atrophy.(c)Normal retina.Photos courtesy of Mr Graeme Black,St Marys Hospital,Manchester.
