Ophthalmic manifestations of trisomy 21 syndrome in the pediatric age group: a cross-sectional study from Cairo University Specialized Pediatric Hospital

Abstract Background Trisomy 21 Syndrome is one of the most common chromosomal conditions in the world, affecting an estimated 1 in 700 live births. It manifests with a wide range of ophthalmic findings. These include strabismus, amblyopia, accommodation defects, refractive error, eyelid abnormalities, nasolacrimal duct obstruction, nystagmus, keratoconus, cataracts, retinal abnormalities, optic nerve abnormalities, and glaucoma. This study aimed to identify the ophthalmic manifestations of trisomy 21 syndrome in pediatric age group and correlate them with systemic features. Materials and methods In this cross-sectional study, 48 trisomy 21 patients between the age of 1 to 9 years were included. All children underwent ocular examination which included visual examination, slit lamp examination and fundus examination. Patients’ characteristics and systemic data (anthropometry, congenital heart disease, thyroid status) were recorded. Results Refractive errors were the most frequent ocular abnormality: astigmatism 71.9% (69 eyes), tigroid retina 51% (49 eyes), hyperopia 40.6% (39 eyes), myopia 36.4% (35 eyes), hyperemic disc 27.1% (26 eyes), strabismus 25% (12 patients) mainly esotropia, blepharitis 20.8% (20 eyes), nystagmus 14.6% (7 patients), conjunctivitis 14.6% (14 eyes). Less frequent findings included tortuous retinal vessels 8.3% (8 eyes), peripapillary atrophy 6.3% (6 eyes), cataract 5.2% (5 eyes), pale disc 5.2% (5 eyes), pigmentary retinal abnormalities 4.2% (4 eyes), nasolacrimal obstruction 2.1% (2 eyes), and glaucoma 1% (1 eye). Congenital heart disease was present in 45.8% (22 patients) and hypothyroidism in 6.3% (3 patients) of the studied group. Significant correlations were observed between some ocular findings and systemic features. Conclusions Ocular abnormalities are highly prevalent in children with Trisomy 21. Early comprehensive ophthalmic screening should be integral to routine care to optimize visual and developmental outcomes.