Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 12, 2000, Pages 3933-3935

  Hirose, E ^a   Inoue, Y ^a   Morimura, H ^a   Okamoto, N ^a   Fukuda, M ^a   Yamamoto, S ^a   Fujikado, T ^a   Tano, Y ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOL DEHYDROGENASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; EXON; EYE FUNDUS ALBIPUNCTATUS; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; JAPAN; MISSENSE MUTATION; NIGHT BLINDNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALCOHOL OXIDOREDUCTASES; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FUNDUS OCULI; HUMANS; JAPAN; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; NIGHT BLINDNESS; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 0033759762     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Die sogenannte Retinitis punctata albescens
2. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene
3. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
4. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
5. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
6. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
7. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
8. 11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus
9. The first step in vision: Femtosecond isomerization of rhodopsin
10. Chemistry of visual adaptation in the rat
11. Intracellular localization and membrane topology of 11-cis retinol dehydrogenase in the retinal pigment epithelium suggest a compartmentalized synthesis of 11-cis retinaldehyde
12. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene
13. Short-chain dehydrogenases/reductases (SDR)
14. Three novel mutations in the RDH5 encoding 11-cis retinol dehydrogenase in patients with fundus albipunctatus