[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension]

Abstract

Purpose: The Axenfeld-Rieger syndrome (ARS) shows genetic and morphologic heterogeneity and is associated with glaucoma in 50% of the patients.

Methods: Ocular, dental, and systemic anomalies, maximum intraocular pressure (IOPmax), frequency of ARS or glaucoma in the family history (FH), and age at diagnosis (AAD) of 26 consecutively examined patients with ARS and glaucoma or elevated IOP were evaluated retrospectively.

Results: In 65.4% of the patients hypoplasia of the iris was found. Almost 50% of the patients had systemic anomalies, dental anomalies being the most frequent. Of 26 patients, 12 (46.2%) had an ARS in the FH; 57.7% of the patients had a FH of glaucoma with or without ARS. No significant differences in IOPmax and frequency of iris hypoplasia and glaucoma surgery were found when patients with and without ARS in their FH and patients with and without iris hypoplasia were compared.

Conclusion: Patients with iris hypoplasia and patients with ARS and/or glaucoma in the FH do not show a worse glaucoma prognosis than patients without iris hypoplasia or without a FH of glaucoma or ARS. ARS was diagnosed within the 1st year of life in approximately half of the patients. Therefore, children of ARS patients should be screened as soon as possible to improve early diagnosis of ARS and glaucoma and to improve glaucoma prognosis. As the dental and facial anomalies may require treatment in the first dentition, patients with ARS should be referred to a dentist or orthodontist.