Anomalies associated with Axenfeld-Rieger syndrome

Background: To detect the associated anomalies in patients with Axenfeld-Ri eger syndrome is clinically important, because early treatment for such ano malies is crucial to both visual and systemic development. This study was c onducted to clarify the associated anomalies in the syndrome. Methods: We e valuated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya Ci ty University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe's line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. Results: The series consisted of 9 males a nd 12 females, ranging in age from 1 month to 41 years, mean 15.4+/-12.7 (S D) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associat ed ocular anomalies included sclerocornea in 6 eyes of 3 patients, developm ental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iri s coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited gl aucoma. The accompanying systemic anomalies included 9 cases of dental anom alies, 5 of facial anomalies, and 3 of Alagille syndrome. Conclusions: All of the, associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger sy ndrome should therefore be examined for the presence of anomalies in the ti ssues of neural crest origin. Patients with hypoplasia of the iris should b e checked for glaucoma.