Pasutto Francesca

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

These data highlight the genetic and phenotypic heterogeneity of childhood glaucoma and support the use of gene panels incorporating FOXC1 as a diagnostic aid, especially because clinical features of Axenfeld-Rieger syndrome can be subtle.

Establishment of an Advanced In Vitro Model for Pseudoexfoliation Syndrome and Glaucoma.

This advanced in vitro model, which recapitulates the hallmark of PEX syndrome/glaucoma, may provide a useful, easy-to-handle platform for studying disease mechanisms, assessing the impact of genetic and external factors, and exploring effects of targeted…