May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Autosomal Recessive Retinitis Pigmentosa Gene Analysis in Italian Patients
Author Affiliations & Notes
  • F. Simonelli
    Seconda Universita degli studi di Napoli, Napoli, Italy
    Dipartimento di Oftalmologia,
  • S. Rossi
    Seconda Universita degli studi di Napoli, Napoli, Italy
    Dipartimento di Oftalmologia,
  • F. Testa
    Seconda Universita degli studi di Napoli, Napoli, Italy
    Dipartimento di Oftalmologia,
  • V. Di Iorio
    Seconda Universita degli studi di Napoli, Napoli, Italy
    Dipartimento di Oftalmologia,
  • C. Ziviello
    Seconda Universita degli studi di Napoli, Napoli, Italy
    3Institute of Genetics and Biophysics "A. Buzzati-Traverso", CNR, Naples, Italy,
    2Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy, Naples, Italy
  • E. Rinaldi
    Seconda Universita degli studi di Napoli, Napoli, Italy
    Dipartimento di Oftalmologia,
  • S. Banfi
    Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy
  • Footnotes
    Commercial Relationships  F. Simonelli, None; S. Rossi, None; F. Testa, None; V. Di Iorio, None; C. Ziviello, None; E. Rinaldi, None; S. Banfi, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 454. doi:
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      F. Simonelli, S. Rossi, F. Testa, V. Di Iorio, C. Ziviello, E. Rinaldi, S. Banfi; Autosomal Recessive Retinitis Pigmentosa Gene Analysis in Italian Patients. Invest. Ophthalmol. Vis. Sci. 2008;49(13):454.

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

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Abstract

Purpose: : To identify possible mutations in known candidate genes in Italian patients with autosomal recessive retinitis pigmentosa (ARRP).

Methods: : One hundred ARRP unrelated Italian patients were screened for mutations in genes responsible for this condition, using an integrated strategy based on the use of a microarray chip containing disease-associated sequence variants in seventeen ARRP genes, DHPLC analysis and direct sequencing. The RP diagnosis was based on Snellen visual acuity evaluation, slit lamp biomicroscopy, retinography, perimetry and electroretinography (ERG).

Results: : Preliminary analysis showed that causative mutations were found in 23 ARRP families in the USH2A (13%), PDE6B (6%), PNR (2%), CNGA1 (1%) and PDE6A (1%) genes. Two of the mutations identified represent novel sequence variants in the PDE6B gene. The clinical features of each patient, together with the segregation analysis within the families strongly support the pathogenicity of these mutations.

Conclusions: : This is the first molecular and clinical analysis of autosomal recessive retinitis pigmentosa in Italy, which was performed simultaneously on all the genes currently known to cause this condition. Only 23% of the analyzed families so far turned out to have causative mutations in the genes analyzed. This study indicates that mutations in the USH2A gene are responsible for a relevant proportion of ARRP cases in Italy and that, on the other hand, the currently known set of ARRP mutations account for the ARRP pathogenesis in less than ¼ of the analyzed families. The latter observation confirm that, similar to what observed in other highly heterogeneous retinal inherited disorders, the genetic epidemiology of ARRP in Italy is different from that reported in other populations, and namely in northern Europe and United States.

Keywords: retinitis • gene screening • mutations 
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