A novel Gly35ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy

Archives of Ophthalmology

Volumn 119, Issue 7, 2001, Pages 1059-1063

  Wada, Y ^a   Abe, T ^a   Sato, H ^a   Tamai, M ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GLYCINE; GUANINE; NUCLEOTIDE; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DARK ADAPTATION; DISEASE ASSOCIATION; DNA DETERMINATION; ELECTRORETINOGRAM; EYE FUNDUS ALBIPUNCTATUS; FAMILY STUDY; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; HUMAN; MALE; NIGHT BLINDNESS; NIGHT VISION; PATHOGENESIS; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DEGENERATION; VISUAL FIELD;

EID: 0034943560     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.119.7.1059     Document Type: Article

References (13)

1. Mutation in the gene encoding 11-cis retinol dehydrogenase causes delayed dark adaptation and fundus albipunctatus
2. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus
3. Flecked retina disease
4. Fundus albipunctatus associated with cone dystrophy
5. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP
6. Standard for clinical electroretinography
7. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene
8. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
9. Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
10. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
11. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
12. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM 1 loci