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Posterior corneal features in patients with Down syndrome and their relation with keratoconus


Aims To characterise posterior corneal surface features in patients with Down syndrome (DS) and to compare them with healthy and mild keratoconus corneas.

Methods This restrospective, comparative, non-randomised, clinical study included 123 eyes, divided into three groups (37 eyes of patients with DS, 46 with mild keratoconus and 40 controls), and took place at Vissum Alicante. Only patients with no previous ocular surgery, no corneal scars and no active ocular disease other than keratoconus were included. The Sirius System topographer (CSO, Firenze, Italy) was used in order to analyse posterior corneal surface keratometry, shape and keratoconus screening indices, posterior corneal aberrations, corneal volume and pachymetry.

Results Patients with DS, when compared with healthy controls, have a steeper (mean keratometry 7 mm (KM): −6.30±0.44 vs −6.15±0.22; p<0.05) and more irregular (root mean square per unit of area: 4.5 mm 0.22±0.22 vs 0.09±0.03, p<0.001; posterior vertex of the ectatic area: 33.22±44.29 vs 10.63±2.88, p<0.001) posterior corneal surface, with higher aberrations (high-order aberrations (HOAs): 1.07±1.43 vs 0.15±0.06, p<0.001; coma-like: 0.88±1.09 vs 0.13±0.07, p<0.001) and thinnest pachymetry (497.68±26.88 vs 538.95±31.67, p<0.001). At the same time, no statistically significant difference was found between patients with DS and patients with mild keratoconus (p>0.05) in KM (−6.38±0.34), HOA (0.56±0.36), coma-like (0.51±0.34) and pachymetry (500.56±36.83).

Conclusions Posterior corneal surface of patients with DS is steeper, more irregular and shows more higher order aberrations, as well as reduced volume and thinner pachymetry than patients with healthy corneas. Additionally, posterior corneal surface in patients with DS shows similar characteristics to those found in mild keratoconus.

  • cornea
  • dystrophy
  • diagnostic tests/investigation
  • genetics

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