Axenfeld-Rieger syndrome: recognition, management and treatment options

Mindaugas Variakojis1, Vaiva Mačionienė2

1Lithuanian University of Health Sciences, Kaunas, Lithuania.

2Department of Ophthalmology at the Kauno Klinikos Hospital of Lithuanian University of Health Sciences


Axenfeld-Rieger syndrome is a rare multi-system disorder that is passed on by way of autosomal dominant inheritance. Muatations occur in genes encoding transcription factors. PITX2 and FOXC1, is significantly associated with the onset of early-stage glaucoma. Clinical signs include a variety of organs including bony structures of the face, heart, teeth, eyes, pituitary gland, neurosensory hearing aid, brain. In medical practice, early diagnosis of the disorder, recognition and assessment of clinical symptoms and the selection of an appropriate treatment is of utmost importance. For the ophthalmologist, the principal task becomes the management of glaucoma. The structural changes of the eye such as peripheral anterior synechiae, posterior embryotoxon, polycoria, that are characteristic of the syndrome lead to a difficult and complex glaucoma development process. This becomes a challenge for the medical specialist seeking effective treatment and positive patient outcomes. This article describes the main genetic causes of the syndrome, the main mutations, details the clinical changes in the eye, their significance for the course of the disease, discusses the methods of treatment, effectiveness.

Keywords: glaucoma, Axenfeld-Rieger syndrome, FOXC1, transcription factors, posterior embryotoxon, dysgenesis.