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。

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_690CT>GG in RDH5gene. The proband and mother had a previously reported mutation c.928delCinsGAAG. CONCLUSION:A novel disease-causing mutation in RDH5gene (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.

中国国家自然科学基金资助项目（No.81000402）