Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy

American Journal of Ophthalmology

Volumn 134, Issue 3, 2002, Pages 463-465

  Nakamura, Makoto ^a   Ito, Sei ^a   Terasaki, Hiroko ^a   Miyake, Yozo ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CACNA1F GENE; CASE REPORT; DISEASE ASSOCIATION; ELECTRORETINOGRAPHY; EYE FUNDUS; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPAN; KINETICS; MALE; NIGHT BLINDNESS; OPHTHALMOLOGY; PATIENT; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA GYRATE ATROPHY; SCOTOMA; VISUAL FIELD DEFECT;

EID: 0036741979     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)01541-6     Document Type: Article

References (5)

1. Miyake Y., Yagasaki K., Horiguchi M., Kawase Y., Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol. 104:1986;1013-1020.
2. Schubert G., Bornschein H. Beitrag zur analyse des menschlichen electroretinogram. Ophthalmologica. 123:1952;396-413.
3. Strom T.M., Nyakatura G., Apfelstedt-Sylla E., et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 19:1998;260-263.
4. Bech-Hansen N.T., Naylor M.J., Maybaum T.A., et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 19:1998;264-267.
5. Nakamura M., Ito S., Terasaki H., Miyake Y. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest Ophthalmol Vis Sci. 42:2001;1610-1616.