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H.C. Lai, N.G. Congdon, K. Broman, R. Wojciechowski, B. Munoz, S. West; Heritability of Age-related Nuclear Cataract in a Population-based Cohort and Siblings in Salisbury Maryland . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4243.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To quantify the risk for age-related nuclear cataract associated with having an affected sibling, after adjusting for known environmental and personal risk factors. Methods: All participants (probands) in the Salisbury Eye Evaluation (SEE) project and their locally-resident siblings underwent digital slit lamp and retro-illumination lens photography and were administered a questionnaire to assess risk factors for cataract including: age, gender, lifetime sun exposure, smoking and diabetes history, and use of alcohol and medications such as estrogens and steroids. Additionally, blood pressure, body mass index and serum ascorbate and retinol were measured for all participants. Lens photographs were graded by trained observers masked to the subjects’ identity, using the Wilmer Cataract Grading System. Family association, and residual correlation between siblings, of nuclear cataract grade were estimated via generalized estimating equations. A parametric bootstrap was used to obtain a 95% confidence interval (95% CI) of the residual correlation. Results: Among 234 probands(mean age 71.1 ± 4.0 years) and 426 siblings (mean age 72.0 ± 7.7 years), the average sibship size was 2.8 per family. Multivariate analysis showed the likelihood for developing nuclear cataract was significantly increased (OR = 2.8, 95% CI, 1.5-5.4) among probands with a sibling with nuclear cataract (nuclear grade ≥ 2.0). The final fitted model indicated a magnitude of heritability for nuclear cataract of 40% (95% CI: 14-68%) after adjustment for the covariates. Conclusions: This study is consistent with a genetic effect for age-related nuclear cataract, a common and clinically significant form of lens opacity. A genome-wide scan for genes contributing to this effect is now on-going.
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