Keratoconus detection by novel indices in patients with Down syndrome: a cohort population-based study

To use novel indices to determine the prevalence of KC and its progression in patients aged 10-30 years with Down syndrome.

Cohort population-based study.

Two hundred twenty-six of 250 invited Down syndrome patients were enrolled. The diagnostic criteria were confirmed by two independent expert examiners using slit-lamp examinations and topographic indices measured by Pentacam HR (Oculus Optikgeräte): maximum keratometry centered on the steepest point (zonal Kmax-3 mm), Ambrósio's relational thickness (ART), inferior-superior asymmetry (IS-value), Belin/Ambrósio deviation value (BAD-D), the Tomographic and Biomechanical Index (TBI), and a posterior elevation map. In the KC cases, Corvis ST (Oculus Optikgeräte) was done. All the KC cases completed the second phase in 2017.

KC was identified in 28 patients (12.39%; 95% confidence interval: 8.2-17.9%): 20 bilateral and eight unilateral cases. Of these, 24 were in the ≤ 20-years age group, and four, in the > 20-years age group. The frequency of KC was not significantly correlated with age (P = 0.804) or gender (P = 0.322). In the KC cases, the mean zonal Kmax-3 mm, ART-max, IS-value, BAD-D, CBI, and TBI were 50.40 ± 5.88 D, 321.63 ± 111.94 μm, 1.99 ± 2.51, 3.73 ± 3.12, 0.54 ± 0.61, and 0.86 ± 0.20, respectively, and the minimum corneal thickness was 492.17 ± 42.67 μm. Of the 28 patients, 39.6% showed progression, and all were in the ≤ 20-years age group.

The prevalence of KC in Down syndrome patients is significantly higher than that reported in non-Down syndrome individuals of the same age groups. The progression rate is approximately similar to that of the non-Down syndrome population. Screening programs should be applied to prohibit serious visual impairment in these populations.