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.