Unusual Frequencies of Rhodopsin Mutations and Polymorphisms in Southern African Patients with Retinitis Pigmentosa

  • Jacquie Greenberg
  • Lisa Roberts
  • Rajkumar Ramesar


The average adult eye contains approximately 92 000 000 rods and 5 000 000 cones distributed throughout the retina. Cone cells function in colour perception, while rod cells are required for vision in low light. Degeneration of primarily the rod photoreceptor cells is the cause of Retinitis Pigmentosa (RP). This is a group of hereditary disorders characterised by night-blindness and gradual constriction of the visual fields, resulting in partial or total blindness. RP can be inherited in dominant, recessive, X-linked, mitochondrial or digenic modes. It may also present as part of a syndrome.1


Retinitis Pigmentosa A269G Polymorphism Single Stranded Conformational Polymorphism Rhodopsin Gene Autosomal Dominant Retinitis Pigmentosa 
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  1. 1.
    G. Clarke, E. Heon, and R. R. Mclnnes, Recent Advances in the molecular basis of inherited photoreceptor degeneration, Clin. Genet. 57: 313–329 (2000).PubMedCrossRefGoogle Scholar
  2. 2.
    P. McWilliam, J. Farrar, P. Kenna, D. G. Bradley, M. M. Humphries, E. M. Sharp et al., Autosomal Dominant Retinitis Pigmentosa (ADRP): localisation of an ADRP gene to the long arm of chromosome 3, Genomics 5: 619–622 (1989).PubMedCrossRefGoogle Scholar
  3. 3.
    T. P. Dryja, T. L. McGee, E. Reichel, L. B. Hahn, G. S. Cowley, D. W. Yandell et al., A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature 343:364–366 (1990).PubMedCrossRefGoogle Scholar
  4. 4.
    J. Phenan, and D. Bok, A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes, Mol. Vis. 6: 116–124 (2000). Scholar
  5. 5.
    E. Tarttelin, M. Al-Maghtheh, J. Keen, S. Bhattacharya, and C. Ingelheara, Simple tests for rhodopsin involvement in retinitis pigmentosa, J. Med. Genet. 33: 262–263 (1996).PubMedCrossRefGoogle Scholar
  6. 6.
    S. Van Soenst, A. Westerveld, P. T. V. M. de Jong , E. M. Bleeker-Wagemakers, and A. A. B. Bergen, Retinitis Pigmentosa: Defined from a molecular point of view, Surv. Ophth. 43(4): 321–359 (Jan-Feb 1999).CrossRefGoogle Scholar
  7. 7.
    C. Ingleheara, Molecular Genetics of human retinal dystrophies, Eye 12: 571–579 (1998).CrossRefGoogle Scholar
  8. 8.
    C. Ingleheara, T. Keen, R. Bashir, M. Jay, F. Fitzke, A. C. Bird et al., A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa, Hum. Mol. Genet. 1(1): 41–45 (1992).CrossRefGoogle Scholar
  9. 9.
    J. Greenberg, T. Franz, R. Goliath, and R. Ramesar, A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa using a rapid screening approach for common rhodopsin mutations, South Afr. Med. J. 89(8): 877–878 (1999).Google Scholar
  10. 10.
    L. Roberts, R. Ramesar, and J. Greenberg, Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa, Clin. Genet. 58: 77–78 (2000).PubMedCrossRefGoogle Scholar
  11. 11.
    R. Goliath, S. Bardien, A. September, R. Martin, R. Ramesar, and J. Greenberg, Rhodopsin mutation Glyl09Arg in a family with autosomal dominant retinitis pigmentosa, Hum. Mut. Supplement 1: 40–41 (1998).CrossRefGoogle Scholar
  12. 12.
    P. Rosenfeld, L. Hahn, M. Sandberg, T. Dryja, and E. Berson, Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation, I. O. V. S 36 (11): 2186–2192 (October 1995).Google Scholar
  13. 13.
    C. Sung, C. Davenport, J. Hennessey, I. Maumenee, S. Jacobson, J. Heckenlively et al., Rhodopsin mutations in ADRP, Proc. Natl. Acad. Sci. USA 88: 6481–6485 (August 1991).PubMedCrossRefGoogle Scholar
  14. 14.
    J. Greenberg, R. Goliath, P. Beighton, and R. Ramesar, A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17, Hum. Mol. Genet. 3: 913–918 (1994).CrossRefGoogle Scholar
  15. 15.
    S. Bardien, N. Ebenezar, J. Greenberg, C. F. Ingleheara, L. Bartmann, R. Goliath et al., An eighth locus for autosomal dominant retinitis pigmentosa is genetically linked to chromosome 17q, Hum. Mol. Genet. 4: 1459–1462 (1995).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • Jacquie Greenberg
  • Lisa Roberts
  • Rajkumar Ramesar
    • 1
  1. 1.Department of Human GeneticsUCT Medical SchoolObservatorySouth Africa

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