A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus

American Journal of Ophthalmology

Volumn 130, Issue 5, 2000, Pages 672-675

  Kuroiwa, Sachiko ^a   Kikuchi, Takanobu ^a   Yoshimura, Nagahisa ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOL DEHYDROGENASE;

ADULT; ARTICLE; CASE REPORT; EYE DISEASE; EYE FUNDUS; EYE FUNDUS ALBIPUNCTATUS; FAMILY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS;

ALCOHOL OXIDOREDUCTASES; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENOTYPE; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA;

EID: 0033760984     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00765-0     Document Type: Article

References (5)

1. Lauber H. Die sogenaunte retinitis punctata albescens. Klin Monatsbl Augenheilkd 1910;48:133-148.
2. Miyake Y, Shiroyama N, Sugita S, Horiguchi M, Yagasaki K. Fundus albipunctatus associated with cone dystrophy. Br J Ophthmol 1992;76:375-379.
3. 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.
4. 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.
5. Gonzalez-Fernandez F, Kurz D, Bao Y, et al. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis 1999;5:41-46.