Axenfeld-Rieger syndrome , ARS (skrót)

Developmental disorders of the ocular anterior segment, including Axenfeld-Rieger syndrome, are often associated with elevated IOP and glaucoma [ 1 2 ] .

Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.

Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly.

Therefore, mutations that alter the level of BMPs or alter the degree of BMP signaling are candidates to contribute to Axenfeld-Rieger syndrome and other conditions involving anterior segment malformation, elevated IOP, and glaucoma.