COL5A1 and Ehlers-Danlos syndrome: The keratoconus patients in our sample did not have Ehlers-Danlos syndrome, so we did not expect them to harbor pathogenic variants in the protein-coding sequence of COL5A1. Additionally, it was previously found that patients with keratoconus do not show enrichment in rare potentially pathogenic variants in protein-coding sequences, and only intron variants of unknown significance were found [40, 41].