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Related Experiment Video

Updated: May 22, 2026

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

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Published on: July 24, 2020

Ocular abnormalities and systemic disease in Down syndrome.

Branka Stirn Kranjc¹

¹Retrospective Clinical Study, University Eye Hospital, Ljubljana, Slovenia. branka.stirn@guest.arnes.si

|May 23, 2012

Summary

Children with Down syndrome (DS) frequently experience eye problems, often linked to systemic conditions like heart defects. Understanding these comorbidities is crucial for effective diagnosis and treatment in DS patients.

Area of Science:

Ophthalmology
Genetics
Pediatrics

Background:

Children with Down syndrome (DS) commonly present with ocular issues such as refractive errors, strabismus, and cataracts.
Limited data exists on the association between these eye problems and systemic diseases in DS individuals.

Purpose of the Study:

To investigate the correlation between ophthalmic conditions and specific systemic diseases in children with Down syndrome.

Main Methods:

A study was conducted on 65 children with DS (aged 2 months to 13 years) referred to a university eye hospital.
Ophthalmic examinations and review of pediatric medical records were performed.

Main Results:

Common ocular findings included nystagmus, esotropia, epiphora, Brushfield spots, and lens opacities. Hyperopia was the most frequent refractive error.

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Congenital heart defects were present in 30.7% of participants. Nystagmus showed associations with myopia, esotropia, and heart disease.

Other systemic conditions like hypothyroidism and hearing loss were less prevalent.

Conclusions:

Comorbidities are frequent in children with Down syndrome.
These co-occurring conditions can complicate the diagnosis, development, and therapeutic management of DS patients.