Incidence of ocular pathologies in Italian children with Down syndrome

Eur J Ophthalmol. 2007 Sep-Oct;17(5):817-22. doi: 10.1177/112067210701700521.


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.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Down Syndrome / complications*
  • Eye Diseases / complications
  • Eye Diseases / epidemiology*
  • Female
  • Humans
  • Incidence
  • Infant
  • Italy / epidemiology
  • Male
  • Retrospective Studies