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Genotypic expression may predict risk factors of AMD and response to therapy
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SAN FRANCISCO — Genetic variants, especially located on chromosomes 1 and 10, appear to correlate with phenotypic expressions of age-related macular degeneration.
The most well known of these genetic risk factors, Ivana K. Kim, MD, said here at Retina Subspecialty Day preceding the American Academy of Ophthalmology meeting, is complement factor H (CFH), which has been associated with increased risk of AMD progression, as well as larger choroidal neovascular lesion size.
Genotype CFH Y402H may also predict threatment response, Dr. Kim said. Specifically, patients in the AREDS study population with the polymorphism had a reduced response to nutritional supplementation. As well, separate studies have raised the prospect that the CFH Y402H polymorphism predicts poorer response to photodynamic therapy, and that different allelic expressions of CFH Y402H are associated with varying response to anti-VEGF therapy.
Other recently identified genotypic variants have been associated with risk of AMD progression, bilaterality of disease, and increased CNV lesion size or risk of polypoidal choroidal vasculopathy. Another genetic variant, C2/CFB, may actually be protective against progression of AMD, Dr. Kim said.