April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
A Survey of Molecular Pathology of 175 Families With Dominant Retinitis Pigmentosa
Author Affiliations & Notes
  • R. Mukhopadhyay
    Institute of Ophthalmology, University College London, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Z. Li
    Institute of Ophthalmology, University College London, London, United Kingdom
  • S. Devery
    Moorfields Eye Hospital, London, United Kingdom
  • G. Wright
    Moorfields Eye Hospital, London, United Kingdom
  • T. Colclough
    Regional Genetics Services, National Genetics Reference Laboratory (Manchester), Manchester, United Kingdom
  • J. O'Sullivan
    Regional Genetics Services, National Genetics Reference Laboratory (Manchester), Manchester, United Kingdom
  • G. Black
    Regional Genetics Services, National Genetics Reference Laboratory (Manchester), Manchester, United Kingdom
  • S. Bhattacharya
    Institute of Ophthalmology, University College London, London, United Kingdom
  • A. Webster
    Institute of Ophthalmology, University College London, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • A. Moore
    Institute of Ophthalmology, University College London, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships  R. Mukhopadhyay, None; Z. Li, None; S. Devery, None; G. Wright, None; T. Colclough, None; J. O'Sullivan, None; G. Black, None; S. Bhattacharya, None; A. Webster, None; A. Moore, None.
  • Footnotes
    Support  EVI Genoret, Foundation Fighting Blindness, Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 2297. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      R. Mukhopadhyay, Z. Li, S. Devery, G. Wright, T. Colclough, J. O'Sullivan, G. Black, S. Bhattacharya, A. Webster, A. Moore; A Survey of Molecular Pathology of 175 Families With Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2297.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : To survey families with autosomal dominant RP (ADRP) for mutations in known genes, to determine the spectrum of mutations in each gene and to estimate the proportion of dominant RP caused by the different genes.

Methods: : All families registered with a diagnosis of ADRP on the Moorfields Eye Hospital genetic clinic database were included in the study. An affected member of each family was screened by sequencing for mutations in the RHO, RDS, and RP9 genes. We also looked for c.527+3 A>G and c.1115_1125del11 mutations in PRPF31, c.410 A>T mutation in PAP1, mutations in exon 42 of PRPF8, hotspot of exon 4 of RP1, exon 1 of NRL and exon 8 of IMPDH1 genes.

Results: : There were 176 dominant RP families with individuals from which DNA could be obtained. A causative mutation could be identified in 101 families while 75 families had no known mutations. Mutations in RHO, PRPF31 and RP1 were the commonest in that order. Of the families where the causative mutation was identified 41% had mutations in the rhodopsin gene and 23% had the two common mutations in PRPF31.

Conclusions: : The causative mutations in families with ADRP can be identified using this strategy in 57% of families. The remaining families either have novel mutations in the known genes or mutations in genes that have not yet been identified.

Keywords: retinal degenerations: hereditary 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×