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Posterior corneal features in patients with Down syndrome and their relation with keratoconus
  1. Alfredo Vega-Estrada1,2,3,
  2. Chiara Fariselli2,
  3. Jorge L Alio1,2,3
  1. 1Cornea and Refractive Surgery Department, Vissum, Alicante, Spain
  2. 2Research and Development Department, Vissum, Alicante, Spain
  3. 3Vissum Corporation, Alicante, Spain
  1. Correspondence to Professor Jorge L Alio, Vissum Corporation, Alicante 3016, Spain; jlalio{at}vissum.com

Abstract

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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Footnotes

  • Contributors AV-E and JLA conceived and designed the study. AV-E and JLA provided patients. CF collected data and performed the statistical analysis. AV-E and CF performed the literature search and the interpretation of data. AV-E and CF wrote the manuscript.

  • Funding This publication has been carried out in the framework of the Red Temática de Investigación Cooperativa en Salud (RETICS), reference number RD16/0008/0012, financed by the Instituto Carlos III – General Subdirection of Networks and Cooperative Investigation Centers (R&D&I National Plan 2008-2011) and the European Regional Development Fund (Fondo Europeo de Desarrollo Regional FEDER).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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