Comprehensive ophthalmological assessment in children with down syndrome: a cross-sectional study from Uzbekistan

Objective. To determine the prevalence and spectrum of ocular abnormalities in children with Down syndrome in Uzbekistan using an adapted, comprehensive clinical and functional ophthalmological assessment protocol. Materials and Methods. A descriptive observational clinical study was carried out at the Republican Specialized Scientific-Practical Medical Center for Eye Microsurgery and included 61 children (122 eyes) aged from 4 months to 15 years with genetically confirmed Down syndrome. All participants underwent an expanded ophthalmological examination that included adapted visometry, slit-lamp biomicroscopy, ophthalmoscopy, objective refraction assessment and autorefractometry, tonometry, B-scan ultrasonography, corneal Scheimpflug tomography (Pentacam and WaveLight Oculyzer), and OCT. Examination techniques were modified according to the patients’ age, cognitive characteristics, and degree of cooperation. Quantitative parameters were compared with published age-specific normative values. Results. Multiple concurrent ocular findings were present in the majority of children; only 6.6% had no detectable ocular pathology. The most common findings were epicanthus (91.8%), refractive error (73.8%), Brushfield spots (72.1%), strabismus (27.9%), lacrimal drainage pathology (18.0%), amblyopia (13.1%), keratoconus (4.9%), and optic nerve anomalies (4.9%). Mean cycloplegic spherical equivalent was +0.20 ± 2.76 D, mean intraocular pressure 14.4 ± 2.9 mmHg, and mean axial length 22.83 ± 1.49 mm. Comprehensive tomography additionally detected suspected subclinical corneal ectasia in two children in whom routine examination had found no keratoconus. Conclusion. A structured and multidisciplinary ophthalmological examination algorithm substantially improves the detection of ocular pathology in patients with Down syndrome, including subclinical abnormalities. The integration of adapted comprehensive assessment protocols into routine ophthalmological follow-up may contribute to improved visual outcomes, enhanced social adaptation, and reduced long-term healthcare burden..

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