Heritability of pachymetric indices using Pentacam Scheimflug imaging

To investigate the heritability of corneal thickness at the apex, entrance pupil centre, thinnest point, pachymetric progression index (PPI) and maximum Ambrósio relational thickness (ART_max) using Pentacam.

The present cross-sectional and population-based study was conducted in two rural districts that were selected randomly. Individuals 5 years and older and data from households where one of the parents and at least one child participated in the study were considered for this analysis. All subjects were examined for visual acuity, refraction, biomicroscopy and, finally, Pentacam imaging. The heritability estimate was used to calculate familial aggregation of pachymetric indices.

Of the 3851 selected individuals, 3314 participated in the study. After applying the exclusion criteria, a total of 1383 individuals from 382 households were included in the analysis; of these, 754 (54.52%) were female. The mean age of the subjects was 37.23±19.35 years (from 6 to 93 years). The highest heritability was observed for corneal thickness at the apex (85%), and the lowest was for ART_max (27.62%). The heritability of other studied parameters, including corneal thickness at the entrance pupil centre, thinnest point and average PPI, was 82.0%, 77.0% and 31.49%, respectively.

The high heritability of the mentioned pachymetric parameters confirms the high correlation between these phenotypes and genetic factors and calls for genetic and molecular research to find related genes and to understand the aetiology of associated diseases, especially glaucoma and keratoconus.