May 2003
Volume 44, Issue 13
ARVO Annual Meeting Abstract  |   May 2003
Mutation Screening of RPGR in Male Patients With X-Linked or Isolated Forms of Retinitis Pigmentosa or Cone-Rod Dystrophy
Author Affiliations & Notes
  • F.Y. Demirci
    Ophthalmology, Univ. of Pittsburgh SOM, Pittsburgh, PA, United States
  • A.L. Radak
    Human Genetics, Univ. of Pittsburgh GSPH, Pittsburgh, PA, United States
  • B.W. Rigatti
    Human Genetics, Univ. of Pittsburgh GSPH, Pittsburgh, PA, United States
  • E.I. Traboulsi
    Ophthalmology, Cleveland Clinic Foundation, Cleveland, OH, United States
  • T. Alitalo
    Ob/gyn, Helsinki Univ. Hospital, Helsinki, Finland
  • T.S. Mah
    Ob/gyn, Helsinki Univ. Hospital, Helsinki, Finland
  • M.B. Gorin
    Ophthalmology and Human Genetics, Univ. of Pittsburgh SOM and GSPH, Pittsburgh, PA, United States
  • Footnotes
    Commercial Relationships  F.Y. Demirci, None; A.L. Radak, None; B.W. Rigatti, None; E.I. Traboulsi, None; T. Alitalo, None; T.S. Mah, None; M.B. Gorin, None.
  • Footnotes
    Support  NIH EY13130, Core Grant EY08098; Eye & Ear Foundation of Pgh; Res. to Prevent Blindness, NY
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 2312. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      F.Y. Demirci, A.L. Radak, B.W. Rigatti, E.I. Traboulsi, T. Alitalo, T.S. Mah, M.B. Gorin; Mutation Screening of RPGR in Male Patients With X-Linked or Isolated Forms of Retinitis Pigmentosa or Cone-Rod Dystrophy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2312.

      Download citation file:

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

  • Supplements

Abstract: : Purpose: Mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene isolated from RP3 region (Xp21.1) have been reported to be responsible for up to 70% of X-linked (XL) retinitis pigmentosa (RP) families. RPGR exon ORF15 mutations have also been shown to cause XL-atrophic macular degeneration and COD1 type XL-cone-rod dystrophy (CRD). This study is intended to determine the spectrum and frequency of RPGR mutations in our male patients with XL or isolated forms of RP or CRD. Methods: RPGR exons 1-14 and exon ORF15 were screened for mutations by direct PCR sequencing of samples from 5 XLRP and 11 XL-CRD families and a total of 24 male patients with isolated forms of either RP or CRD. Unlike previous reports that primarily screened isolated RP cases with severe phenotypes, we evaluated all available isolated RP males to avoid an ascertainment bias. Results: Mutations were found in 2 XLRP samples (IVS1+1G>A and ORF15+483_484delGA) and in 2 isolated RP samples (213G>A and 1404C>T). Analyses of additional samples are underway. The 213G>A (G52R) is a novel missense mutation, which would also be predicted to disrupt normal splicing and was not detected in 100 control chromosomes. The 1404C>T (R449X) mutation was found in an affected male whose mother had both normal alleles, thus representing a de novo mutation. Despite a sampling bias created by our previous efforts to recruit COD1 families, more than half of our XL-CRD families have not been mapped to COD1 region and/or lack RPGR mutations, supporting the importance of genetic heterogeneity. No RPGR mutations were detected in any isolated CRD cases. Conclusions: Our data supports the involvement of RPGR in isolated RP. The determination of the mode of inheritance by molecular testing has major implications for genetic counseling. The comparison of phenotypes of RPGR mutation-positive patients versus negatives may provide indicators for prediction of the isolated cases at high-risk for RPGR mutations. A larger cohort will be necessary to clearly establish any correlation of phenotype with RPGR mutations. However, the phenotypes of our isolated cases with RPGR mutation are consistent with the early onset, severe RP previously reported in RP3 families.

Keywords: retinal degenerations: hereditary • mutations • genetics 

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.