Congenital hypothyroidism in Axenfeld-Rieger syndrome

Abstract

Axenfeld-Rieger syndrome (ARS) manifests varying degrees of anterior segment dysgenesis and carries a risk of resistant glaucoma. It can affect ocular and extraocular structures derived from the neural crest. A small part of the thyroid gland originates from the neural crest, and defects in thyroid origination can result in thyroid agenesis. Thyroid agenesis is a cause of congenital hypothyroidism. We have presented clinical features the first case of ARS associated with congenital hypothyroidism.