Novel RDH5 Mutation in Family with Mother Having Fundus Albipunctatus and Three Children with Retinitis Pigmentosa

Abstract

Purpose: 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. Results/Conclusions: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP.