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(Investigative Ophthalmology and Visual Science. 2004;45:2182-2186.)
© 2004 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.03-1163
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Nuclear Cataract Shows Significant Familial Aggregation in an Older Population after Adjustment for Possible Shared Environmental Factors

Nathan Congdon, Karl W. Broman, Hong Lai, Beatriz Munoz, Heidi Bowie, Donna Gilber, Robert Wojciechowski, Christine Alston, and Sheila K. West

From The Johns Hopkins University Schools of Medicine and Public Health, Baltimore, Maryland.

PURPOSE. To quantify the association between siblings in age-related nuclear cataract, 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 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. In addition, blood pressure, body mass index, and serum antioxidants were measured in all participants. Lens photographs were graded by trained observers masked to the subjects’ identity, using the Wilmer Cataract Grading System. The odds ratio for siblings for affectedness with nuclear cataract and the sibling correlation of nuclear cataract grade, after adjusting for covariates, were estimated with generalized estimating equations.

RESULTS. Among 307 probands (mean age, 77.6 ± 4.5 years) and 434 full siblings (mean age, 72.4 ± 7.4 years), the average sibship size was 2.7 per family. After adjustment for covariates, the probability of development of nuclear cataract was significantly increased (odds ratio [OR] = 2.07, 95% confidence interval [CI], 1.30–3.30) among individuals with a sibling with nuclear cataract (nuclear grade ≥ 3.0). The final fitted model indicated a magnitude of heritability for nuclear cataract of 35.6% (95% CI: 21.0%–50.3%) after adjustment for the covariates.

CONCLUSIONS. Findings in this study are consistent with a genetic effect for age-related nuclear cataract, a common and clinically significant form of lens opacity.




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P. Duggal, A. P. Klein, K. E. Lee, S. K. Iyengar, R. Klein, J. E. Bailey-Wilson, and B. E. K. Klein
A Genetic Contribution to Intraocular Pressure: The Beaver Dam Eye Study
Invest. Ophthalmol. Vis. Sci., February 1, 2005; 46(2): 555 - 560.
[Abstract] [Full Text] [PDF]


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