19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree

Genetic analysis confirmed the PITX2 (g.20 913 G>T) mutation was associated with Axenfeld-Rieger and FED in 10 of 20 descendants in this family. This matches the autosomal dominant inheritance pattern with a probability of 50%. Glaucoma and corneal decompensation were progressive over 19 years, with variable expression and early onset in subsequent pedigree members.