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


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.
Wang
Chunxia
C
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nakanishi
Nobuo
N
Ohishi
Kentaro
K
Hikoya
Akiko
A
Koide
Kenro
K
Sato
Miho
M
Nakamura
Makoto
M
Hotta
Yoshihiro
Y
Minoshima
Shinsei
S
D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002648:Child; D005260:Female; D005654:Fundus Oculi; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D009755:Night Blindness / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics*
D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5