Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of the iris, and ectopic pupils. Open-angle glaucoma can lead to blindness and is the main target of treatment in RIEG. Defects in other organ systems, typically the craniofacial, dental, and umbilical abnormalities, are also part of the disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA11 Structural developmental anomalies of the anterior segment of eye
H00620 Axenfeld-Rieger syndrome
