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Original Investigation
September 2018

Corneal Morphologic Characteristics in Patients With Down Syndrome

Author Affiliations
  • 1Division of Ophthalmology, Universidad Miguel Hernández, Alicante, Spain
  • 2Keratoconus Unit of Vissum Corporation Alicante, Alicante, Spain
  • 3Department of Refractive Surgery, Vissum Corporation Alicante, Alicante, Spain
  • 4Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt
  • 5Genetics Unit, Cairo University Children’s Hospital, Cairo, Egypt
JAMA Ophthalmol. 2018;136(9):971-978. doi:10.1001/jamaophthalmol.2018.2373
Key Points

Question  What is the frequency of corneal morphologic abnormalities similar to keratoconus and what are the main corneal characteristics in patients with Down syndrome?

Findings  In this multicenter observational study, the presence of corneal features similar to the ones found in patients with keratoconus might be present in more than 70% of patients with Down syndrome.

Meaning  This study suggests a high incidence of keratoconus in patients with Down syndrome and the potential need to perform a more detailed corneal examination to provide a more accurate therapeutic approach and avoid further complications in these patients.


Importance  Literature suggests corneal morphologic characteristics compatible with keratoconus are present in a high percentage of patients with Down syndrome (DS), suggesting the need to perform a detailed examination of the anterior segment to try to avoid serious visual impairment in this group of patients.

Objective  To characterize the abnormal features of the cornea in patients with DS and compare these with a control group.

Design, Setting, and Participants  Multicenter case-control study at Vissum Alicante, Alicante, Spain, and the Ophthalmology and Pediatric Department, Cairo University, Cairo, Egypt. Data collection took place between May 2013 and May 2016. Data were analyzed between June 2016 and August 2016. The study included 321 eyes of 217 participants from 2 groups: 112 participants in the DS group and 105 healthy participants in the control group.

Interventions  Patients were evaluated using Placido disc/Scheimpflug camera topographer (Sirius, CSO). Visual, refractive and anterior, and posterior corneal characteristics were assessed and compared in both groups.

Main Outcomes and Measures  Keratoconus diagnosis. Incidence of corneal morphologic irregularities similar to keratoconus in patients with DS.

Results  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. In the control group, mean (SD) age was 40.29 (14.66) years, 54 (51%) were women, and all were white. Clinical assessment of corneal topography showed that 71.3% (95% CI, 45.2-97.4) of patients in the DS group showed characteristics compatible with keratoconus. Differences were found 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).

Conclusions and Relevance  Patients with DS have steeper and thinner corneas and more corneal aberrations than those without genetic alterations and normal corneas. The findings suggest a detailed corneal study should be considered in such patients to detect keratoconus and implement treatment as appropriate to try to avoid serious visual impairment in this group of patients.