A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots

American Journal of Ophthalmology

Volumn 136, Issue 3, 2003, Pages 572-574

  Yamamoto, Hiroyuki ^a   Yakushijin, Kimikazu ^a   Kusuhara, Sentaro ^a   Escaño, Michael Francis T ^a   Nagai, Azusa ^a   Negi, Akira ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; EYE FUNDUS ALBIPUNCTATUS; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN GENOME; MALE; MISSENSE MUTATION; MUTATOR GENE; OPHTHALMOSCOPY; PRIORITY JOURNAL; RDH5 GENE; RETINA MACULA DEGENERATION;

EID: 0042327791     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)00332-5     Document Type: Article

References (5)

1. Yamamoto H., Simon A., Eriksson U., et al. Mutations in the gene encoding 11-cis retinol dehydrogenase caused delayed dark adaptation and fundus albipunctatus. Nat Gent. 22:1999;188-191.
2. Nakamura M., Hotta Y., Tanikawa A., et al. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci. 41:2000;3925-3932.
3. Hiroe T., Kitagawa Y., Uyama Y. Fundus albipunctatus cum Hemeralopia congenita. J Jpn Ophthalmol Soc. 47:1943;1475-1485.
4. Lauber H. Die sogenannte Retinitis punctata albescens. Klin Monatsbl Augenheilkd. 48:1910;133-148.
5. Kurz D.E., Van Niel E.F., Young Y.E., et al. Mutations in 11-cis retinal dehydrogenase emmbrane anchor region cause a form of fundus albipunctatus with fading spots. Invest Ophthalmol Vis Sci. 41:2000;S615.