IOVS Journal of Bacteriology
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Originally published In Press as doi:10.1167/iovs.07-1654 on March 31, 2008
 (Investigative Ophthalmology and Visual Science. 2008;49:3100-3106.)
© 2008 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.07-1654
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Coagulation Gene Predictors of Photodynamic Therapy for Occult Choroidal Neovascularization in Age-Related Macular Degeneration

Francesco Parmeggiani,1 Ciro Costagliola,2 Donato Gemmati,3 Sergio D'Angelo,1 Paolo Perri,1 Claudio Campa,1 Linda Catozzi,3 Federica Federici,3 Adolfo Sebastiani,1 and Carlo Incorvaia1

1From the Department of Ophthalmology and the 3Department of Hematology, Study Center for Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy; and the 2Department of Health Sciences, University of Molise, Campobasso, Italy.

PURPOSE. To determine whether different coagulation-balance genetic polymorphisms explain the variable clinical outcomes of photodynamic therapy with verteporfin (PDT-V) in Caucasian patients with occult subfoveal choroidal neovascularization (CNV) due to age-related macular degeneration (AMD).

METHODS. The clinical records of consecutive patients with AMD-related occult CNV, treated with PDT-V for evidence of disease progression, were retrospectively examined. Eighty-four eligible subjects were subdivided into responders and nonresponders based on CNV responsiveness to the first PDT-V over a 3-month period. Six gene polymorphisms (i.e., factor V G1691A, prothrombin G20210A, factor XIII-A G185T, methylenetetrahydrofolate reductase C677T, methionine synthase A2756G, and methionine synthase reductase A66G) were genotyped in each patient. Logistic regression analyses were performed to explore the predictive role of phenotypic and genotypic variables for PDT-V effectiveness.

RESULTS. Regression models documented that PDT-V nonresponders were more frequently patients with the hyperfibrinolytic G185T mutation of factor XIII-A (odds ratio [OR], 0.28; 95% confidence interval [CI], 0.11–0.73; P < 0.01). Univariate logistic regression was indicative of an overrepresentation of PDT-V responders among the combined carriers of thrombophilic factor V 1691A and prothrombin 20210A alleles (OR = 3.8; 95% CI: 0.94–15.6; P = 0.07). All the other predictors considered did not significantly influence the short-term CNV responsiveness to PDT-V.

CONCLUSIONS. These data provide evidence of the presence of a pharmacogenetic relationship between peculiar coagulation-balance genetic backgrounds and different levels of PDT-V effectiveness in patients with AMD with occult CNV.






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