Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X)

Acta Ophthalmologica Scandinavica

Volumn 82, Issue 5, 2004, Pages 616-622

  Nakamura, Yosuke ^a   Hayashi, Takaaki ^a   Kozaki, Kenichi ^a   Kubo, Akiko ^a   Omoto, Satoshi ^a   Watanabe, Akira ^a   Toda, Kazushige ^a   Takeuchi, Tomokazu ^a   Gekka, Tamaki ^a   Kitahara, Kenji ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal recessive inheritance; Candidate gene analysis; Colour vision defects; Hereditary retinal disorder; Nonsense mutation

Indexed keywords

CELL NUCLEUS RECEPTOR; GENOMIC DNA; GLUTAMINE;

ADOLESCENT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL SPECIFICITY; COLOR VISION TEST; DISEASE TRANSMISSION; DNA ISOLATION; ELECTRORETINOGRAPHY; ENHANCED S CONE SYNDROME; EYE REFRACTION; FLUORESCENCE ANGIOGRAPHY; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; JAPAN; LIGAND BINDING; MALE; NONSENSE MUTATION; OPHTHALMOSCOPY; PHENOTYPE; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA DISEASE; SEQUENCE ANALYSIS; STOP CODON; VISUAL ACUITY;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CODON, NONSENSE; CODON, TERMINATOR; COLOR VISION DEFECTS; CONES (RETINA); ELECTRORETINOGRAPHY; FUNDUS OCULI; GLUTAMINE; HUMANS; MALE; NIGHT BLINDNESS; PEDIGREE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DISEASES; SYNDROME; TRANSCRIPTION FACTORS; VISUAL ACUITY;

EID: 6344250884     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0420.2004.00328.x     Document Type: Article

References (29)

1. Birch J, Chisholm IA, Kinnear P, Pokorny J, Smith VC & Verriest G (1979): Clinical testing methods. In: Pokorny J, Smith VC, Verriest G & Pinckers AJ, eds. Congenital and Acquired Colour Vision Defects. New York: Grune & Stratton 83-135.
2. Cideciyan AV, Jacobson SG, Gupta N et al. (2003): Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S-cone syndrome caused by mutations in NR2E3. Invest Ophthalmol Vis Sci 44 1268-1274.
3. Fishman GA, Jampol LM & Goldberg MF (1976): Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol 60: 345-353.
4. Gerber S, Rozet JM, Takezawa SI et al. (2000): The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Hum Genet 107: 276-284.
5. Greenstein VC, Zaidi Q, Hood DC, Spehar B, Cideciyan AV & Jacobson SG (1996): The enhanced S-cone syndrome: an analysis of receptoral and post-receptoral changes. Vision Res 36: 3711-3722.
6. Haider NB, Jacobson SG, Cideciyan AV et al. C (2000): Mutation of a nuclear receptor gene, NR2E3, causes enhanced S-cone syndrome, a disorder of retinal cell fate. Nat Genet 24: 127-131.
7. Hood DC, Cideciyan AV, Roman AJ & Jacobson SG (1995): Enhanced S-cone syndrome: evidence for an abnormally large number of S-cones. Vision Res 35: 1473-1481.
8. Hovis JK, Cawker CL & Cranton D (1996): Comparison of the standard pseudoisochromatic plates - Parts 1 and 2 - as screening tests for congenital red/green colour vision deficiencies. J Am Optom Assoc 67: 320-326.
9. Jacobson SG, Marmor MF, Kemp CM & Knighton RW (1990): SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31: 827-838.
10. Jacobson SG, Roman AJ, Roman MI, Gass JD & Parker JA (1991): Relatively enhanced S-cone function in the Goldmann-Favre syndrome. Am J Ophthalmol 111: 446-453.
11. Jurklies B, Weismann M, Kellner U, Zrenner E & Bornfeld N (2001): Clinical findings in autosomal recessive syndrome of blue cone hypersensitivity. Ophthalmologe 98: 285-293.
12. Kandatsu A & Kitahara K (1993): The visual characteristics of a case of Pigment-farbenanomalie. In: Drum B, ed. Colour Vision Deficiencies XI. Dordrecht, Netherlands: Kluwer Academic Publishers 113-117.
13. Kellner U, Zrenner E, Sadowski B & Foerster MH (1993): Enhanced S-cone sensitivity syndrome: longterm follow-up, electrophysiological and psychophysical findings. Clin Vision Sci 8 425-434.
14. Kitahara K (1998): Individual variations in colour vision and its molecular biology. Nippon Ganka Gakkai Zasshi 102: 837-849.
15. Kobayashi M, Takezawa S, Hara K et al. (1999): Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci U S A 96: 4814-4819.
16. Kranda K & King-Smith PE (1979): Detection of coloured stimuli by independent linear systems. Vision Res 19: 733-745.
17. Marmor MF (1989): Large rod-like photopic signals in a possible new form of congenital night blindness. Doc Ophthalmol 71: 265-269.
18. Marmor MF, Jacobson SG, Foerster MH, Kellner U & Weleber RG (1990): Diagnostic clinical findings of a new syndrome with night blindness, maculopathy and enhanced S-cone sensitivity. Am J Ophthalmol 110: 124-134.
19. Marmor MF, Tan F, Sutter EE & Bearse MA Jr (1999): Topography of cone electrophysiology in the enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 40: 1866-1873.
20. Miano MG, Jacobson SG, Carothers A et al. (2000): Pitfalls in homozygosity mapping. Am J Hum Genet 67: 1348-1351.
21. Milam AH, Rose L, Cideciyan AV et al. (2002): The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A 99: 473-478.
22. Nakamura M, Hotta Y, Piao CH, Kondo M, Terasaki H & Miyake Y (2002): Enhanced S-cone syndrome with subfoveal neovascularization. Am J Ophthalmol 133: 575-577.
23. Nasr YG, Cherfan GM, Michels RG & Wilkinson CP (1990): Goldmann-Favre maculopathy. Retina 10: 178-180.
24. Peyman GA, Fishman GA, Sanders DR & Vlchek J (1977): Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. Ann Ophthalmol 9: 479-484.
25. Roman AJ & Jacobson SG (1991): S-cone-driven but not S-cone-type electro-retinograms in the enhanced S-cone syndrome. Exp Eye Res 53: 685-690.
26. Sawusch M, Pokorny J & Smith VC (1987): Clinical electroretinography for short wave-length sensitive cones. Invest Ophthalmol Vis Sci 28: 966-974.
27. Sharon D, Sandberg MA, Caruso RC, Berson EL & Dryja TP (2003): Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 121: 1316-1323.
28. To KW, Adamian M, Jakobiec FA & Berson EL (1996): Clinical and histopathologic findings in clumped pigmentary retinal degeneration. Arch Ophthalmol 114: 950-955.
29. Yamamoto S, Hayashi M & Takeuchi S (1999): Electroretinograms and visual evoked potentials elicited by spectral stimuli in a patient with enhanced S-cone syndrome. Jpn J Ophthalmol 43: 433-437.