Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals.

ABSTRACT:

Purpose

To adopt molecular screening in asymptomatic individuals at high risk of developing keratoconus as a combinative approach to prevent subclinical patients from post-refractive surgery progressive corneal ectasia.

Methods

In this study, 79 Chinese and nine Greek families with keratoconus were recruited, including 91 patients with clinically diagnosed keratoconus as well as their asymptomatic but assumptive high-risk first-degree relatives based on underlying genetic factor. Mutational screening of VSX1, TGFBI, and ZEB1 genes and full clinical assessment including Pentacam Scheimpflug tomography were carried out in these individuals.

Results

Five variants in VSX1 and TGFBI genes were identified in three Chinese families and one

SUBMITTER: Chen S 

PROVIDER: S-EPMC8202288 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature