Phenotypic characteristics associated with CFH variants

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).