Genetic Predictors of Response to Photodynamic Therapy
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REVIEW ARTICLE
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Genetic Predictors of Response to Photodynamic Therapy Francesco Parmeggiani,1 Donato Gemmati,2 Ciro Costagliola,3 Francesco Semeraro,4 Paolo Perri,1 Sergio D’Angelo,1 Mario R. Romano,3 Katia De Nadai,5 Adolfo Sebastiani1 and Carlo Incorvaia1 1 2 3 4 5
Department of Ophthalmology, University of Ferrara, Ferrara, Italy Department of Hematology, Center of Hemostasis and Thrombosis, University of Ferrara, Ferrara, Italy Department of Health Sciences, University of Molise, Campobasso, Italy Department of Ophthalmology, University of Brescia, Brescia, Italy Center for Retinitis Pigmentosa of Veneto Region, Unita Locale Socio Sanitaria 15 Alta Padovana, Camposampiero Hospital, Camposampiero, Italy
Contents Abstract. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1. Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2. Mechanism of Action and Clinical Performance of Photodynamic Therapy with Verteporfin (PDT-V) . . . . . . . . . . . . . . . . . . . . . . . . . 3. Pharmacogenetics and Efficacy Profile of PDT-V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
195 196 197 198
3.1 Hyperhomocysteinemic Effect of the MTHFR 677C>T Polymorphism and Thrombo-Vascular Consequences for Choroidal Neovascularization (CNV) Susceptibility to PDT-V. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 201 3.2 Thrombophilic Effects of Single Nucleotide Polymorphisms that Increase Thrombin Generation and Thrombo-Vascular Consequences for CNV Susceptibility to PDT-V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 202 3.3 Antithrombophilic Effects of the F13A1 185G>T Polymorphism and Thrombo-Vascular Consequences for CNV Susceptibility to PDT-V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 203 4. Pharmacogenetic and Safety Profile of PDT-V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 204 5. Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 204
Abstract
In Western countries, therapeutic management of patients affected by choroidal neovascularization (CNV) secondary to different typologies of macular degeneration represents a major health care probl
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