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Corneal morphologic characteristics in patients with Down syndrome

JAMA Ophthalmology Jul 03, 2018

Alio JL, et al. - Authors ascertained the abnormal features of the cornea in patients with Down syndrome (DS) and compared these with a control group. Steeper and thinner corneas and more corneal aberrations than those without genetic alterations and normal corneas were seen in patients with DS . In such patients, a detailed corneal study should be considered to detect keratoconus and implement treatment as appropriate to try to avoid serious visual impairment in this group of patients.

Methods

  • Researchers conducted a multicenter case-control study at Vissum Alicante, Alicante, Spain, and the Ophthalmology and Pediatric Department, Cairo University, Cairo, Egypt.
  • They collected the data between May 2013 and May 2016.
  • Data analysis took place between June 2016 and August 2016.
  • A total of 321 eyes of 217 participants from 2 groups were included in the study: 112 participants in the DS group and 105 healthy participants in the control group.
  • They evaluated the patients using Placido disc/Scheimpflug camera topographer (Sirius, CSO).
  • They evaluated the visual, refractive and anterior, and posterior corneal characteristics and compared in both groups.
  • Main outcomes and measures were keratoconus diagnosis and the incidence of corneal morphologic irregularities similar to keratoconus in patients with DS.

Results

  • As per the data, in the DS group, mean (SD) age was 14.88 (15.76) years, 54 (48%) were women, 66 (59%) were white, and 46 (41%) were Arab.
  • Findings suggested that the mean (SD) age in the control group was 40.29 (14.66) years, 54 (51%) were women, and all were white.
  • Authors noted that clinical assessment of corneal topography showed that characteristics compatible with keratoconus were demonstrated by 71.3% (95% CI, 45.2-97.4) of patients in the DS group.
  • They noted the differences in steepest keratometry of 47.35 diopters (D) in patients with DS vs 43.70 D in control individuals (difference, 3.65 D; 95% CI, 3.23-4.35 D;P < .001) and in corneal pachymetry of 503 μm in patients with DS vs 545 μm in control individuals (difference, 42 μm; 95% CI, 38.8-56.7 μm;P < .001).

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