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

Ophthalmic Genetics

Volumn 29, Issue 1, 2008, Pages 29-32

  Wang, Chunxia ^a   Nakanishi, Nobuo ^a   Ohishi, Kentaro ^a   Hikoya, Akiko ^a   Koide, Kenro ^a   Sato, Miho ^a   Nakamura, Makoto ^b   Hotta, Yoshihiro ^a   Minoshima, Shinsei ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Fundus albipunctatus; Mutation; Night blindness; RDH5 gene; Retinitis pigmentosa

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; EYE EXAMINATION; EYE FUNDUS ALBIPUNCTATUS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; MALE; MOTHER; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; OPHTHALMOSCOPY; PRIORITY JOURNAL; RDH5 GENE; RETINITIS PIGMENTOSA; SCHOOL CHILD; SIBLING; VISUAL ACUITY; VISUAL FIELD;

ALCOHOL OXIDOREDUCTASES; CHILD; FEMALE; FUNDUS OCULI; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; RETINA; RETINITIS PIGMENTOSA;

EID: 41149098530     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701663535     Document Type: Article

References (12)

1. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999;22:188-191.
2. Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci. 2000;41:3925-3932.
3. Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci. 2000;41:3933-3935.
4. Sekiya K, Nakazawa M, Ohguro H, Usui T, Tanimoto N, Abe H. Long-term fundus changes due to fundus albipunctatus associated with mutations in the RDH5 gene. Arch Ophthalmol. 2003;121:1057-1059.
5. Wada Y, Abe T, Fuse N, Tamai M. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci. 2000;41:1894-1897.
6. Nakamura M, Miyake Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol. 2002;133:278-280.
7. Minoshima S, Mitsuyama S, Ohtsubo M, Kawamura T, Ito S, Shibamoto S, Ito F, Shimizu N. The KMDB/Mutation View: A mutation database for human disease genes. Nucl Acids Res. 2001;29:327-328.
8. Cooper DN, Ball EV, Krawczak M. The human gene mutation database. Nucleic Acids Res. 1998;26:285-287.
9. Moustacchi E. DNA damage and repair: consequences on dose-responses. Mutat Res. 2000;464:35-40.
10. Kuroiwa S, Kikuchi T, Yoshimura N. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol. 2000;130:672-675.
11. Sato M, Oshika T, Kaji Y, Nose H. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. Ophthalmic Res. 2004;36:43-50.
12. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat. 2000;15(1):7-12.