Long-term fundus changes due to fundus albipunctatus associated with mutations in the RDH5 gene

Archives of Ophthalmology

Volumn 121, Issue 7, 2003, Pages 1057-1059

  Sekiya, Keigo ^b   Nakazawa, Mitsuru ^a   Ohguro, Hiroshi ^b   Usui, Tomoaki ^b   Tanimoto, Naoyuki ^b   Abe, Haruki ^b  

^a HIROSAKI UNIVERSITY   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EYE FUNDUS; EYE FUNDUS ALBIPUNCTATUS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; NIGHT BLINDNESS; PRIORITY JOURNAL; VISUAL ACUITY; VISUAL FIELD;

ADULT; ALCOHOL OXIDOREDUCTASES; DNA MUTATIONAL ANALYSIS; FEMALE; FUNDUS OCULI; HUMANS; MUTATION, MISSENSE; NIGHT BLINDNESS; POLYMERASE CHAIN REACTION;

EID: 0038601768     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.7.1057-a     Document Type: Article

References (5)

1. Marmor MF. Long-term follow-up of the physiologic abnormalities and fundus change in fundus albipunctatus. Ophthalmology. 1990;97:380-384.
2. 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.
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. Hirose E, Inoue Y, Morimura H, et al. Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci. 2000;41:3933-3935.
5. Hayasaka S, Shiono T, Hara S, Mizuno K. Regional distribution of lysosomal enzymes in the retina and choroids of human eyes. Albrecht von Graefes Arch Klin Exp Ophthalmol. 1981;216:269-273.