Thrombospondin 1 Missense Alleles Induce Extracellular Matrix Protein Aggregation and TM Dysfunction in Congenital Glaucoma

Investigators identified heterozygous thrombospondin 1 missense alleles altering p.Arg1034 in three unrelated and ethnically diverse families affected by congenital glaucoma, a severe form of glaucoma affecting children.