Pharmacogenomics in Ophthalmology

  • Stephen G. Schwartz
  • Tomomi Higashide
  • Milam A. BrantleyJr.


Pharmacogenomics is an evolving research discipline within ophthalmology, but genetic data are not currently used to guide daily clinical decisions. Ophthalmic pharmacogenomic research has thus far focused on open-angle glaucoma (OAG) and age-related macular degeneration (AMD), two common and worldwide causes of visual loss. In the treatment of OAG and allied disorders, there are reported associations between various polymorphisms in adrenergic receptor genes and topical β-antagonists as well as between the prostaglandin receptor gene and a topical prostaglandin analogue. In the treatment of exudative AMD, there are reported associations between AMD-associated genes, such as complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), and the efficacy of different treatment modalities including photodynamic therapy and intravitreal vascular endothelial growth factor (VEGF) antagonists. The steroid response associated with ophthalmic corticosteroids has been investigated, but no definite genetic associations have been reported. As additional pharmacogenomic trials are reported, the precise relationship between genotype and treatment response may become clearer.


Normal Tension Glaucoma Intravitreal Triamcinolone Acetonide Vascular Endothelial Growth Factor Polymorphism Normal Tension Glaucoma Patient Adrenergic Receptor Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Partially supported by NIH Center Core Grant P30EY014801, an Unrestricted Grant from Research to Prevent Blindness (New York, NY), and the Department of Defense (DOD Grant #W81XWH-09-1-0675).

Dr. Schwartz has performed consulting activities for Alimera, Bausch + Lomb, Eyetech, and ThromboGenics, has received lecture fees from Regeneron, and has received royalties from IC Labs related to the use of genetics to detect steroid responders.


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Copyright information

© Springer India 2013

Authors and Affiliations

  • Stephen G. Schwartz
    • 1
  • Tomomi Higashide
    • 2
  • Milam A. BrantleyJr.
    • 3
  1. 1.Department of OphthalmologyBascom Palmer Eye Institute, University of Miami Miller School of MedicineNaplesUSA
  2. 2.Department of Ophthalmology and Visual ScienceKanazawa University Graduate School of Medical SciencesKanazawa, IshikawaJapan
  3. 3.Department of OphthalmologyVanderbilt UniversityNashvilleUSA

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