The clinical manifestations of keratoconus in the patients presenting with Down syndrome

Down syndrome is one the most widespread forms of genomic pathology accompanied by mental retardation and impairment of cognitive functions. One of the commonest eye diseases in the patients with Down syndrome is corneal ectasia that occurs 10 times more frequently in the children with Down syndrome than in the general population. Objective. Of the present study was the comparative analysis of the biometric parameters of the cornea and the clinical manifestations of keratoconus in the patients presenting with Down syndrome. Materials and methods. We undertook the comprehensive analysis of the biometric parameters of the cornea in 54 patients (108 eyes) with Down syndrome who made up the main study group. The control group was comprised of 62 practically healthy children (124 eyes). Results. The patients presenting with Down syndrome were found to have a higher refractive power of the cornea, a more pronounced elevation of the posterior corneal surface and its irregular patterns, a smaller corneal thickness, and lower degree of corneal hysteresis in comparison with the control children. The verified diagnosis of keratoconus was established in 11 patients of the main group. Conclusion. The present study has revealed keratoconus in 11 (20.4%) children presenting with Down syndrome which suggests a higher prevalence of this pathology in our study group in comparison with its mean prevalence reported thus far for the general population. The early subclinical forms of ceratoconus are known to more frequently occur in the children aged from 12 to 18 years, with the incidence of its later stages being especially high in the group of the patients between 19 and 38 years of age. This discrepancy is supposed to be attributable to the progression of the clinical symptoms of the eye disease with age and its late diagnostics. The deviation of corneal biometric characteristics from the respective normal values documented in 79.6% of the patients included in the present study should be regarded as reflecting the objective situation. It is concluded that the patients presenting with Down syndrome should be referred to the group at enhanced risk of development of keratoconus and undergo the regular ophthalmological examination.

keratoconus, Down syndrome, diagnostics of corneal ectasia