PURPOSE: This study identifies the incidence of primary ocular pathologies in a population of Italian children with Down syndrome. METHODS: A total of 157 Italian children with Down syndrome, age between 1 month and 18 years, were screened between February 2005 and October 2006. The ophthalmologic evaluation included a global inspection of orbit and bulbus oculi, evaluation of ocular motility and visual acuity, slit lamp biomicroscopy, cycloplegic skiascopy, tonometry, and indirect ophthalmoscopy. RESULTS: The overall incidence of ocular abnormalities was epicanthal fold (132 patients, 84%), hyperopia (93 patients, 59%), astigmatism (44 patients, 28%), myopia (14 patients, 9%), strabismus (56 patients, 36%, 45 cases of esotropia and 11 cases of exotropia), congenital nasolacrimal duct obstruction (35 patients, 22%), cataract (18 patients, 11%), nystagmus (9 patients, 6%), blepharitis and conjunctivitis (6 patients, 4%), and retinal anomalies (10 patients, 6%). Unlike previous reports in patients with Down syndrome, no congenital glaucoma, keratoconus, or Brushfield spots were observed. CONCLUSIONS: Compared to other studies in patients with Down syndrome, we observed a higher incidence of hyperopia and a lower incidence of myopia. The incidence of nystagmus, blepharitis,and conjunctivitis was less than that reported in other studies, while strabismus, especially exotropia (20%), had a high incidence in our cohort. We also frequently observed obstruction of the nasolacrimal duct (22%), but no keratoconus or glaucoma.
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