Ocular abnormalities and systemic disease in Down syndrome.

INTRODUCTION: Ocular problems as refractive errors, strabismus, accommodation, and cataract are well known in children with Down syndrome (DS). However, there is little information on the possible correlation of eye problems with systemic diseases such as heart defect (with or without surgery), hypotony, hypothyroidism, hearing loss, and others.
METHODS: Ophthalmic problems versus certain systemic diseases were studied in 65 children with DS, aged 2 months to 13 years, referred to the University Eye Hospital Ljubljana, Slovenia from 2008 to 2010. Standard ophthalmic examination methods were used, and physical data were taken from pediatric records.
RESULTS: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels, foveal hypoplasia, or retinal pigment epithelium hyperplasia (32.2%), and optic disc pallor (7.6%). Hyperopia (36.9%) was the most frequent refractive error in the group, followed by astigmatism (29.2%) and myopia (24.6%). No diagnosed systemic abnormalities were found in 18.3% of the children, while 30.7% had congenital heart defect. Hypothyroidism, hypotony, hearing loss, gastrointestinal tract malformations, and leukemia were less common. Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.
CONCLUSIONS: Comorbidities are common in DS and complicate diagnosis, development, and therapy.