VSX1 and progressive pseudorheumatoid arthropathy of childhood: The original paper identified four VSX1 variants in keratoconus cases that were absent in 277 controls,[31] as well as p.(G160D) and p.(P247R) in a family with PPD.[31] Subsequently, the p.(G160D) variant has been identified in keratoconus cases in two Italian studies[38, 43] a European cohort,[42] and in two cases in the current study.