April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy
Author Affiliations & Notes
  • P. Frezzotti
    Ophthalmology,
    University of Siena, Siena, Italy
  • A. Rufa
    Neurological, Neurosurgical and Behavioral Sciences,
    University of Siena, Siena, Italy
  • I. Motolese
    Ophthalmology,
    University of Siena, Siena, Italy
  • M. Iester
    Clinica Oculistica DINOG, University of Genoa, Genova, Italy
  • G. Gallus
    Neurological, Neurosurgical and Behavioral Sciences,
    University of Siena, Siena, Italy
  • F. Oddone
    Fondazione G.B. Bietti-IRCCS, Rome, Italy
  • M. Centofanti
    University of Rome Tor Vergata, Rome, Italy
  • G. Manni
    University of Rome Tor Vergata, Rome, Italy
  • A. Federico
    Neurological, Neurosurgical and Behavioral Sciences,
    University of Siena, Siena, Italy
  • E. Motolese
    Ophthalmology,
    University of Siena, Siena, Italy
  • Footnotes
    Commercial Relationships  P. Frezzotti, None; A. Rufa, None; I. Motolese, None; M. Iester, None; G. Gallus, None; F. Oddone, None; M. Centofanti, None; G. Manni, None; A. Federico, None; E. Motolese, None.
  • Footnotes
    Support  PAR03 grant from the University of Siena to PF.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 3073. doi:
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      P. Frezzotti, A. Rufa, I. Motolese, M. Iester, G. Gallus, F. Oddone, M. Centofanti, G. Manni, A. Federico, E. Motolese; Evaluation of the Association Between OPA1 Gene Polymorphisms in Normal Tension Glaucoma in Italy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3073.

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Abstract

Purpose: : To assess the influence and frequency of OPA1 polymorphisms in normal tension glaucoma (NTG) patients .

Methods: : Eighteen (18) patients with a previous diagnosis of NTG were enrolled in the study. DNA from peripheral blood leukocites was extracted.The analysis OPA1 gene included exons 8, 9, 12, 13, 14, 15, 16, 27, 28 (GTP-ase domain and coiled coil domain), which are known to be associated with higher risk of pathogenic mutations.

Results: : In one patient with a previous diagnosis of NTG was found a new OPA1 mutation (a 3-bp in-frame deletion, c.2771_2773 del AGA in exon 27. The following intronic polimorphysms were found: IVS8+4T>C (17); IVS8+32T>C (11); 1177A>C (R393R); IVS14+23G>A.

Conclusions: : Recent reports show a significant association between OPA1 IVS 8+4 and 8+32 T/C polymorphisms and NTG, indicating that polymorphisms in OPA 1 gene may be a marker for the disease. Our results not only confirm this data but also point out a new putative pathogenetic mutation of OPA1 in a patient with clinical findings of NTG

Keywords: genetics • intraocular pressure • optic nerve 
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