Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene

American Journal of Ophthalmology

Volumn 125, Issue 2, 1998, Pages 249-251

  Nakamachi, Yoko ^a   Nakamura, Makoto ^b   Fujii, Shigeki ^b   Yamamoto, Misao ^b   Okubo, Kiyoshi ^b  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; ELECTRORETINOGRAPHY; GENE DELETION; GENE EXPRESSION; GENETIC CODE; HUMAN; MALE; NIGHT BLINDNESS; OGUCHI DISEASE; PHENOTYPE; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; TAPETORETINAL DEGENERATION;

EID: 0032006965     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)80100-7     Document Type: Article

References (4)

1. 1. Oguchi C. Uber eine Abart von Hemeralopie. Acta Soc Ophthalmol Jpn 1907;11:123-134.
2. 2. Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 1995;10:360-362.
3. 3. Yamamoto S, Sipped KC, Berson EL, Drayage T. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997;15:175-178.
4. 4. Kajiwara K, Berson EL, Drayage T. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-1608.