May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Clinical Genetic Multicentric Study on Leber Congenital Amaurosis: New Insight on Diagnosis and Follow Up
Author Affiliations & Notes
  • F. Testa
    Dipartimento di Oftalmologia, Seconda Università degli Studi di Napoli, Napoli, Italy
  • S. Rossi
    Dipartimento di Oftalmologia, Seconda Università degli Studi di Napoli, Napoli, Italy
  • P. E. Bianchi
    Dipartimento di Oftalmologia,
    Università di Pavia, Pavia, Italy
  • E. Fazzi
    Dipartimento Neurologia e Psichiatria IRCCS Fondazione C. Mondino,
    Università di Pavia, Pavia, Italy
  • M. Fossarello
    Dipartimento di Oftalmologia, Università di Cagliari, Cagliari, Italy
  • C. Ziviello
    Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy
  • A. Auricchio
    Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy
  • E. Rinaldi
    Dipartimento di Oftalmologia, Seconda Università degli Studi di Napoli, Napoli, Italy
  • F. Simonelli
    Dipartimento di Oftalmologia, Seconda Università degli Studi di Napoli, Napoli, Italy
  • S. Banfi
    Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy
  • Footnotes
    Commercial Relationships F. Testa, None; S. Rossi, None; P.E. Bianchi, None; E. Fazzi, None; M. Fossarello, None; C. Ziviello, None; A. Auricchio, None; E. Rinaldi, None; F. Simonelli, None; S. Banfi, None.
  • Footnotes
    Support Regione Campania art. 66 del D.P.R. 382/80.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1655. doi:
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      F. Testa, S. Rossi, P. E. Bianchi, E. Fazzi, M. Fossarello, C. Ziviello, A. Auricchio, E. Rinaldi, F. Simonelli, S. Banfi; Clinical Genetic Multicentric Study on Leber Congenital Amaurosis: New Insight on Diagnosis and Follow Up. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1655.

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

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Abstract

Purpose:: To carry out a comprehensive mutations analysis of an Italian population of Leber congenital amaurosis (LCA) patients and to perform a genotype-phenotype analysis.

Methods:: DNAs from 95 patients with LCA were analyzed using a microarray chip containing previously identified disease-associated sequence variants in eight LCA genes. Patients with mutations underwent a detailed ophthalmological evaluation including autofluorescence and OCT analysis.

Results:: Pathogenic mutations were identified in 28% of patients with LCA. Six novel sequence variants were identified. Mutations were most frequently found in RPE65 (8.3%), GUCY2D (6.3%) and CRB1 (5.8%). Since early childhood, patients with RPE65 or GUCY2D mutations show minimal retinal abnormalities. Patients with CRB1 mutations progress from minimal retinal abnormalities to a retinitis pigmentosa. Almost all those with RPE65 mutations display normal OCT macular tickness whereas patients with CRB1 mutations have a reduced retinal tickness with a coarsely-laminated retina. The autofluorescence analysis demostrated the presence of fundus autofluorescence in 36% of patients carring RPE65 and GUCY2D mutations. No fundus fluorescence was elicitable in CRB1 patients.

Conclusions:: Microarray-based mutation detection allowed the identification of 28% of LCA sequence variants and the RPE65 gene was found to be involved at a highly significant frequency in the pathogenesis of LCA in the Italian population. The present study establishes a possible association between the OCT profile and the presence or absence of fundus autofluorescence in RPE65 subjects. RPE65 patients retain minimal visual capabilities in the childood and are characterized by a greater integrity of RPE, as shown by normal retinal tickness associated with partially preserved fundus autofluorescence. On the contrary, CRB1 patients seem to present a more rapid progression of the disease, and a compromised integrity of RPE as assessed by OCT and autofluorescence analyses.

Keywords: gene screening • receptors • retinal degenerations: hereditary 
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