Macular dystrophy in a Japanese family with fundus albipunctatus

American Journal of Ophthalmology

Volumn 135, Issue 6, 2003, Pages 917-919

  Hotta, Kazuki ^a   Nakamura, Makoto ^b   Kondo, Mineo ^b   Ito, Sei ^b   Terasaki, Hiroko ^b   Miyake, Yozo ^b   Hida, Tetsuo ^c  

^a KAMEDA MEDICAL CENTER   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Kyorin Eye Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

11 RETINOL DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ADULT; ARTERY LESION; ARTICLE; CASE REPORT; CENTRAL SCOTOMA; COLOR VISION; CONTROLLED STUDY; DNA DETERMINATION; ELECTRORETINOGRAM; ETHNIC GROUP; EYE FUNDUS; EYE FUNDUS ALBIPUNCTATUS; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; JAPAN; MALE; MEDICAL EXAMINATION; OPHTHALMOLOGY; PRIORITY JOURNAL; PUNCH BIOPSY; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SIBLING; VISUAL ACUITY; VISUAL FIELD;

EID: 0038619064     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)02290-0     Document Type: Article

References (5)

1. Heckenlively J. Congenital stationary night blindness. Genetic diseases of the eye. 1998;389-396 Oxford University Press, New York.
2. Miyake Y., Shiroyama N., Sugita S., Horiguchi M., Yagasaki K. Fundus albipunctatus associated with cone dystrophy. Br J Ophthalmol. 76:1992;375-379.
3. Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 22:1999;188-191.
4. 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. 41:2000;3925-3932.
5. Wada Y., Abe T., Sato H., Tamai M. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol. 119:2001;1059-1063.