Children With Down Syndrome Have High Likelihood of Ophthalmic Abnormalities

Children with Down syndrome have a high prevalence of ocular disease, which often goes untreated.

Down syndrome (DS) in children is associated with a high prevalence of neglected ophthalmological manifestations, according to the results of a cross-sectional study published in BMC Ophthalmology.

The purpose of the study was to characterize the ocular alterations of pediatric patients with DS in Colombia. Researchers performed a complete evaluation of 134 eyes from 67 children ages 8 to 16 years.

The study evaluated children with Down syndrome and found ocular manifestations in 100% of participants. Most used glasses (80.3%) and tended to start using them early in life (mean age, 5.1 [SD 3.2] years). Refractive errors (classified by spherical equivalent) were reported for two-thirds of the children and most frequently included hyperopia (23.9%). Other prevalent manifestations included oblique fissure (89.6%), amblyopia (54.5%), and lens opacity (39.4%). Keratoconus was suspected for 53.7% of the children and nystagmus was observed in 28.4%. 

…ophthalmologists and optometrists should be aware of the visual and ocular affection of children with DS to assess and provide appropriate management.

There was a tendency towards higher prevalence of strabismus (P =.009), amblyopia (P =.048), and Hirshberg misalignment (P =.021) among female children with Down syndrome. Female children with DS were also more likely to use glasses (P =.03) and tended to use them earlier than male children (median age 3.5 vs 5 years). 

These abnormalities have functional and therapeutic relevance. Despite their high prevalence, routine ophthalmologic screening is not performed in Colombia for children with Down syndrome. “Therefore, ophthalmologists and optometrists should be aware of the visual and ocular affection of children with DS to assess and provide appropriate management,” the study authors conclude. “This awareness could improve rehabilitation outcomes in children from a low-income level.”

It is possible that subtle ocular manifestations may have been missed that could affect the results. Additionally, researchers report that this study may be influenced by selection bias towards children with Down syndrome from low- and intermediate-income families. Without a matched control group, the influence of demographic factors on ocular findings of children with Down syndrome is unclear.


Rojas-Carabali W, Cortés-Albornoz MC, Flórez-Esparza G, Cifuentes-González C, de-la-Torre A, Talero-Gutiérrez C. Ophthalmic manifestations in children with Down syndrome in Bogotá, ColombiaBMC Ophthalmol. Published online May 15, 2023. doi:10.1186/s12886-023-02863-y