AXENFELD-RIEGER SYDROME: A Case Report

Joy Abigail Simon

OBJECTIVES: To report a documented case of Axenfeld-Rieger Syndrome in the Philippines.

METHODS: Complete ophthalmologic evaluation and documentation (visual acuity, slit lamp biomicroscopy, gonioscopy, applanation tonometry, dilated fundus examination), complete physical examination, perimetry, and optical coherence tomography.

RESULTS: The medical history, ophthalmologic and systemic examination corresponded with the full criteria for Axenfeld-Rieger Syndrome. Ophthalmoligic examination revealed posterior embryotoxon, iris hypoplasia, iridocorneal adhesions on gonioscopy, glaucomatous changes of the optic nerves, and borderline increase in intraocular pressure in both eyes of the patient. Perimetry and OCT revealed patterns suggestive of glaucoma. Systemic evaluation revealed growth and developmental delay, short stature and severe wasting, congenital deafness, microcephaly, mandibular hypolplasia, and hypodontia.

CONCLUSION: We have presented a case of Axenfeld-Rieger syndrome based on clinical ophthalmologic and systemic evaluation.