Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011

Marine Nalbandyan, Meredith M. Howley, Christopher M. Cunniff, Emily Leckman-Westin, Marilyn L. Browne

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Using National Birth Defects Prevention Study (NBDPS) data, we sought to estimate birth prevalence, describe clinical characteristics, and examine risk factors for infantile cataracts. We calculated birth prevalence using the numbers of NBDPS-eligible cataract cases and live births in the study area. We described case infants by the presence of associated ipsilateral eye defects (IEDs) and non-eye-related major birth defects. Using maternal exposure information collected via telephone interview, we conducted logistic regression analyses among the interviewed cases and controls. Birth prevalence of infantile cataracts was 1.07/10,000 live births. Unilateral cataracts were more often associated with IEDs, while infants with bilateral cataracts were more often preterm, full-term with low birth weight, or had non-eye-related major birth defects. Unilateral cataracts were positively associated with maternal nulliparity (adjusted odds ratio [aOR] = 1.61, 95% confidence interval [CI] = 1.18, 2.20; reference: multiparity), whereas bilateral cataracts were positively associated with maternal education <12 years (aOR = 2.08, 95% CI = 1.13, 3.82; reference: education >12 years), and foreign-born nativity (aOR = 1.92, 95% CI = 1.04, 3.52; reference: U.S.-born nativity). The current analysis can inform future epidemiological studies aimed at identifying mechanisms underlying the associations between infantile cataracts and complex maternal exposures, such as lower levels of education and foreign-born nativity.

Original languageEnglish (US)
Pages (from-to)509-521
Number of pages13
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
StatePublished - Feb 2022

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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