目的对一个中国视神经萎缩1(optic atrophy1,OPA1)家系进行临床和基因分析。方法对家系进行连锁分析,通过测序和限制性片段长度多态鉴定致病基因突变。结果在家系患者中均发现OPA1基因的一个错义突变1202(G→A),即G401D,而且患者呈现出视神经萎缩以及听力受损的综合征症状。结论在中国OPA1患者中鉴定了OPA1基因突变,并支持OPA1基因突变可导致伴随有听力受损的视神经萎缩。 Objective To investigate the clinical and genetic analysis of a pedigree of optic atrophy1 (OPA1) in China. Methods The pedigree was analyzed by linkage analysis and pathogenic mutations were identified by sequencing and restriction fragment length polymorphism. Results A missense mutation of the OPA1 gene, 1202 (G → A), ie, G401D, was found in all pedigree patients, and the patient developed symptoms of optic atrophy and impaired hearing syndrome. Conclusion The OPA1 gene mutation was identified in OPA1 patients in China and support for OPA1 gene mutation may lead to optic nerve atrophy with hearing impairment.