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

  • Jacquie Greenberg
  • Lisa Roberts
  • Rajkumar Ramesar

Abstract

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

Keywords

Retinitis Pigmentosa A269G Polymorphism Single Stranded Conformational Polymorphism Rhodopsin Gene Autosomal Dominant Retinitis Pigmentosa 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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