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Incidence of ocular pathologies in Italian children with Down syndrome
F Fimiani1, A Iovine, R Carelli
1Department of Ophthalmology, University of Napoli Federico II, Napoli, Italy.
Insights
This study examined ocular health in Italian children with Down syndrome, finding high rates of epicanthal folds and hyperopia. It also noted significant strabismus and nasolacrimal duct obstruction.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Down syndrome is associated with various health issues, including ocular abnormalities.
- Understanding the specific incidence of these pathologies is crucial for early intervention.
Purpose of the Study:
- To determine the prevalence of primary ocular pathologies in Italian children with Down syndrome.
- To compare these findings with existing literature on ocular conditions in Down syndrome populations.
Main Methods:
- Ophthalmologic evaluations were performed on 157 Italian children with Down syndrome (ages 1 month to 18 years).
- Evaluations included visual acuity, motility, slit lamp biomicroscopy, cycloplegic skiascopy, tonometry, and indirect ophthalmoscopy.
Main Results:
- High incidence of epicanthal fold (84%) and hyperopia (59%).
- Significant rates of strabismus (36%), particularly exotropia (20%), and congenital nasolacrimal duct obstruction (22%).
- Lower incidence of myopia (9%) and nystagmus (6%) compared to some previous studies; no congenital glaucoma or keratoconus observed.
Conclusions:
- The study highlights a distinct pattern of ocular pathologies in Italian children with Down syndrome, with notable variations in hyperopia, myopia, and strabismus incidence.
- Frequent occurrence of nasolacrimal duct obstruction was confirmed.
- Absence of congenital glaucoma and keratoconus in this cohort warrants further investigation.
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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