Cortical, but not posterior subcapsular, cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors

Purpose To quantify the risk for age-related cortical cataract and posterior subcapsular cataract (PSC) associated with having an affected sibling after adjusting for known environmental and personal risk factors. Design Sibling cohort study. Participants Participants in the ongoing Salisbury Eye Evaluation (SEE) study (n = 321; mean age, 78.1±4.2 years) and their locally resident siblings (n = 453; mean age, 72.6±7.4 years) were recruited at the time of Rounds 3 and 4 of the SEE study. Intervention/testing methods Retroillumination photographs of the lens were graded for the presence of cortical cataract and PSC with the Wilmer grading system. The residual correlation between siblings' cataract grades was estimated after adjustment for a number of factors (age; gender; race; lifetime exposure to ultraviolet-B light; cigarette, alcohol, estrogen, and steroid use; serum antioxidants; history of diabetes; blood pressure; and body mass index) suspected to be associated with the presence of cataract. Results The average sibship size was 2.7 per family. Multivariate analysis revealed the magnitude of heritability (h 2 ) for cortical cataract to be 24% (95% CI, 6%–42%), whereas that for PSC was not statistically significant (h 2 4%; 95% CI, 0%–11%) after adjustment for the covariates. The model revealed that increasing age, female gender, a history of diabetes, and black race increased the odds of cortical cataract, whereas higher levels of provitamin A were protective. A history of diabetes and steroid use increased the odds for PSC. Conclusions This study is consistent with a significant genetic effect for age-related cortical cataract but not PSC.