中文摘要：

目的：在母亲诊断为白点状眼底（fundus albipunctatus,FA）而3个子女均为视网膜色素变性（retinitis pigmentosa,RP）的家系中进行RDH5基因的分子遗传学检查,确定一种新型变异。方法：对家系成员进行系统的眼科检查,同时采用聚合酶链反应（PCR）和DNA直接测序法对RDH5基因的编码区进行基因组测序和突变筛查,并在100名正常对照者中对RDH5基因突变的检测结果进行验证。结果：先证者的母亲确诊为FA,而3个子女诊断为RP。母亲、哥哥和姐姐的RDH5基因检测出c.689_690CT〉GG突变,而先证者及其母亲存在已报道的c.928delCinsGAAG变异。结论：本家系中母亲的FA来源于复杂的异质突变,其中c.689_690CT〉GG突变是包括欧美各国在内没有报道过的新变异,而3个子女患RP的分子遗传学病因还有待进一步的研究。

英文摘要：

AIM：To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus（FA） and 3 children with retinitis pigmentosa（RP）.METHODS：Ophthalmological examinations were performed to diagnose FA and RP.Mutational analysis of RDH5 was performed by polymerase chain reaction（PCR） and direct DNA sequencing.RESULTS：The proband＇s mother was diagnosed with FA,and 3 children were diagnosed with RP.The mother,brother,and sister had a novel mutation c.689_690CTGG in RDH5 gene.The proband and mother had a previously reported mutation c.928delCinsGAAG.CONCLUSION：A novel disease-causing mutation in RDH5 gene（Pro230Arg） was found in a family with a mother having FA and 3 children with RP.The mother＇s FA was caused by compound heterozygous mutations.Further studies will be needed to determine the gene responsible for children＇s RP.