Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa

作者：Wang Chunxia; Nakanishi Nobuo; Ohishi Kentaro; Hikoya Akiko; Koide Kenro; Sato Miho; Nakamura Makoto; Hotta Yoshihiro; Minoshima Shinsei^*

来源：Ophthalmic Genetics, 2008, 29(1): 29-32.

DOI：10.1080/13816810701663535

• fundus albipunctatus
• retinitis pigmentosa
• night blindness
• RDH5 gene
• mutation

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.

• 出版日期2008-3