New EMBO Members Review
- The EMBO Journal (2002) 21, 857 - 864
- doi:10.1093/emboj/21.5.857
Subject Categories:
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
G. Jane Farrar1, Paul F. Kenna1 and Peter Humphries1
- The Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin 2, Ireland
Correspondence to:
Peter Humphries, E-mail: pete.humphries@tcd.ie
Received 1 October 2001; Accepted 9 January 2002; Revised 7 January 2002
Abstract
Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we provide an overview of the molecular pathologies associated with such disorders, from which it becomes clearly apparent that RP is one of the most genetically heterogeneous of hereditary conditions for which molecular pathologies have so far been elucidated. While heterogeneity of such magnitude would appear to represent a major impediment to the development of therapeutics, mutation-independent approaches to therapy are being developed to effectively by-pass such diversity in genetic aetiology. The implications of such technologies in terms of therapeutic intervention in RP, and indeed other genetically heterogeneous conditions, will be addressed.
Keywords:
- gene therapy,
- inherited eye disease,
- photoreceptors,
- retinitis pigmentosa,
- ribozymes
