May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: A Multicentric Italian Study
A. Ciccodicola; C. Ziviello; M. Anastasi; B. Falsini; S.A. Tedesco; R. Brancato; C. Garre'; E. Rinaldi; S. Banfi; F. Simonelli
Author Affiliations & Notes
  • A. Ciccodicola
    Institute of Genetics and Biophysics "A. Buzzati–Traverso", CNR, Naples, Italy
  • C. Ziviello
    Institute of Genetics and Biophysics "A. Buzzati–Traverso", CNR, Naples, Italy
    TIGEM, Naples, Italy
  • M. Anastasi
    Department of Ophthalmology, University of Palermo, Palermo, Italy
  • B. Falsini
    Department of Ophthalmology, University Cattolica del Sacro Cuore, Rome, Italy
  • S.A. Tedesco
    Department of Ophthalmology, University of Parma, Parma, Italy
  • R. Brancato
    Department of Ophthalmology and Visual Science, University S. Raffaele, Milan, Italy
  • C. Garre'
    Department of Oncology, Biology and Genetics, University of Genova, Genoa, Italy
  • E. Rinaldi
    Department of Ophthalmology, Second University of Naples, Naples, Italy
  • S. Banfi
    TIGEM, Naples, Italy
  • F. Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
  • Footnotes
    Commercial Relationships  A. Ciccodicola, None; C. Ziviello, None; M. Anastasi, None; B. Falsini, None; S.A. Tedesco, None; R. Brancato, None; C. Garre', None; E. Rinaldi, None; S. Banfi, None; F. Simonelli, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1817. doi:
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      A. Ciccodicola, C. Ziviello, M. Anastasi, B. Falsini, S.A. Tedesco, R. Brancato, C. Garre', E. Rinaldi, S. Banfi, F. Simonelli; Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: A Multicentric Italian Study . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1817.

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Abstract

Abstract: : Purpose: To determine the molecular basis of autosomal dominant retinitis pigmentosa (ADRP) in Italy. Methods: 237 patients from 43 ADRP unrelated Italian families were screened for mutations in the RHO, RDS, RP1, IMPDH1 (RP10), PRPF31 (RP11), HPRP3 (RP18), NRL, FSCN2, PRPF8 (RP13), RP9, CRX, and CA4 genes by DHPLC analysis and direct sequencing. The RP diagnosis was based on Snellen visual acuity evaluation, slit lamp biomicroscopy, retinography, perimetry and electroretinography (ERG). Results: Causative mutations were found in 13 ADRP families (28%) in the RHO (16%), RP1 (5%), NRL (2%), PRPF8 (2%) and CRX (2%) genes whereas mutations were not found in the RDS, PRPF31, IMPDH1, PRPF31, FSCN2, RP9 and CA4 genes. Two of the mutations identified represent novel sequence variations (in the CRX and PRPF8 genes) while the remaining ones have already been described. Futhermore, we identified several new single nucleotide polymorphisms in the coding regions of the analyzed genes. Interestingly, we did not find in the Italian population the rhodopsin Pro23His mutation that is common in the US. Conclusions: This is the first comprehensive molecular and clinical analysis of autosomal dominant retinitis pigmentosa in Italy, which was performed simultaneously on 12 genes. Both the absence in the Italian population of the rhodopsin Pro23His mutation as well as the lack of any mutations in RDS further confirm that the ethnic origin plays an important role in the pathogenesis of RP. Interestingly, only 28% of the analyzed families were found to have causative mutations in the genes screened. These data indicate that a relevant fraction of ADRP (approximately 70%) in Italy may be caused by mutations residing in either novel functional elements (exons or regulatory elements) of known RP genes or by additional unidentified RP genes. This study will be important to improve the genetic counselling and the prognosis evaluation of Italian RP patients.

Keywords: retinal degenerations: hereditary • genetics • mutations 
© 2005, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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