Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene

Archives of Ophthalmology

Volumn 121, Issue 6, 2003, Pages 793-802

  Bessant, David A R ^a,b   Holder, Graham E ^b   Fitzke, Frederick W ^a   Payne, Annette M ^a   Bhattacharya, Shomi S ^a   Bird, Alan C ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; SERINE; THREONINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; FAMILY; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; NIGHT BLINDNESS; NIGHT VISION; NRL GENE; ONSET AGE; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULA EDEMA; RETINITIS PIGMENTOSA; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; DARK ADAPTATION; DNA-BINDING PROTEINS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; LEUCINE ZIPPERS; MALE; MIDDLE AGED; MUTATION; NIGHT BLINDNESS; OPHTHALMOSCOPY; PEDIGREE; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; RETINITIS PIGMENTOSA; SERINE; THREONINE; TRANSCRIPTION FACTORS; VISUAL ACUITY; VISUAL FIELDS;

EID: 0038348777     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.6.793     Document Type: Article

References (26)

1. Bundey S, Crews SJ. A study of retinitis pigmentosa in the city of Birmingham, I: prevalence. J Med Genet. 1984;21:417-420.
2. Bird AC. Retinal photoreceptor dystrophies. Am J Ophthalmol. 1995;119:543-562.
3. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405-416.
4. Bessant DAR, Payne AM, Mitton KP, et al. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet. 1999;21:355-356.
5. Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C, Agarwal N. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc Natl Acad Sci U S A. 1992;89:266-270.
6. Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A. The basic motifleucine zipper transcription factor NRL can positively regulate rhodopsin gene expression. Proc Natl Acad Sci U S A. 1996;93:191-195.
7. Kumar R, Chen S, Scheurer D, et al. The bZIP transcription factor NRL stimulates rhodopsin promoter activity in primary retinal cell cultures. J Biol Chem. 1996;271:29612-29618.
8. Lerner LE, Gribanova YE, Ji M, Knox BE, Farber DB. NRL and SP nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements. J Biol Chem. 2001; 276:34999-35007.
9. Bessant DAR, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS. NRL S50T mutation and the importance of "founder effects" in the inherited retinal dystrophies. Eur J Hum Genet. 2000;8:783-787.
10. Martinez-Gimeno M, Maseras M, Baiget M, et al. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat. 2001;17:520-521.
11. Marmor MF, Zrenner E. Standard for clinical electroretinography (1994 update). Doc Ophthalmol. 1995;89:199-210.
12. Bach M, Hawlina M, Holder GE, et al. Standard for pattern electroretinography: International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol. 2000;101:11-18.
13. Jacobsen SG, Boight WJ, Parel JM. Automated light and dark adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology. 1986;93:1604-1611.
14. Steinmetz RL, Haimovici R, Jubb C, Fitzke FW, Bird AC. Symptomatic abnormalities of dark adaptation in patients with age-related Bruch's membrane change. Br J Ophthalmol. 1993;77:549-554.
15. von Ruckmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol. 1995;79:407-412.
16. Fariss RN, Li ZY, Milam AH. Abnormalities in rod photoreceptors, amacrine cells, and horizontal cells in human retinas with retinitis pigmentosa. Am J Ophthalmol. 2000;129:215-223.
17. Milam AH, Li ZY, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res. 1998;17:175-205.
18. Curcio CA, Saunders PL, Younger PW, Malek G. Peripapillary chorioretinal atrophy: Bruch's membrane changes and photoreceptor loss. Ophthalmology. 2000; 107:334-343.
19. Lyness AL, Ernst W, Quinlan MP, et al. A clinical, psychophysical and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 1985;69:326-339.
20. Massof RW, Finkelstein D. Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol. 1981;51:289-346.
21. Kemp CM, Jacobson SG, Faulkner DJ. Two types of visual dysfunction in autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1988;29:1235-1241.
22. Olsson J, Gordon J, Pawlyk B, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis-pigmentosa. Neuron. 1992;9:815-830.
23. Chen SM, Wang QL, Nie ZQ, et al. CRX, a novel OTX-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron. 1997;19:1017-1030.
24. Freund CL, Gregory-Evans CY, Furukawa T, et al. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 1997;91:543-553.
25. Swain PK, Chen SM, Wang QL, et al. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. 1997;19:1329-1336.
26. Freund CL, Wang Q-L, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet. 1998;18:311-312.