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