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Phenotypic characteristics associated with CFH variants
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Genetic testing should be considered for patients with age-related macular degeneration and certain phenotypic characteristics, such as an extensive drusen area, to determine if they are suitable for future complement-inhibiting therapies, a study concludes.
Previous research has shown an association between rare variance in the complement factor H (CFH) gene and age-related macular degeneration. In this cross-sectional study, researchers analyzed 100 eyes of 51 patients with age-related macular degeneration (AMD) carrying the CFH variant and 204 eyes of 102 noncarriers. The researchers found carrier patients were associated with a statistically significantly greater chance of having a larger percentage of drusen coverage of the Early Treatment Diabetic Retinopathy Study grid than noncarriers (P = .002). Carriers also had a statistically significantly greater chance of having drusen with crystalline appearance (P = .02) and of having drusen nasal to the optic disc (P = .003).
Phenotypic characteristics alone are unlikely to be the sole discriminating factor between carriers and noncarriers, the authors said.
“Therefore, ophthalmologists should consider genetic testing in patients with extensive drusen deposition, drusen with crystalline appearance, and/or drusen nasal to the optic disc in combination with other patient characteristics, such as an early age at onset, cuticular drusen on fluorescein angiography, and a positive family history for AMD,” the authors said. – by Robert Linnehan
Disclosures: Kersten reports no relevant financial disclosures. Please see the full study for a list of all other authors’ relevant financial disclosures.
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