Refractive Childhood Glaucoma Secondary to Axenfeld–Rieger Syndrome

Abstract

Axenfeld-Rieger syndrome (ARS) refers to an autosomal dominant genetic condition characterized by anterior segment dysgenesis and systemic abnormalities. The characteristic features of ocular involvement in ARS include posterior embryotoxon, peripheral anterior synechiae (PAS), ultrastructural abnormalities of the trabecular meshwork and iris stromal atrophy. The risk of glaucoma development in individuals with ARS is approximately 50%. Childhood glaucoma secondary to ARS is often refractive to treatment and may require many surgeries to control the intraocular pressure (IOP), as in our clinical case. Purpose: To present a case with childhood glaucoma secondary to ARS with multiple glaucoma surgeries and to review the accessible literature. Material and methods: А 5-year-old boy with ARS and secondary bilateral glaucoma was admitted for consecutive follow up to the Pediatric Ophthalmology Department of Aleksandrovska University Hospital, Sofia. The left eye was operated for glaucoma with Ahmed valve implantation in Mainz, Germany, in 2019. A comprehensive dilated eye examination was performed together with IOP measurements and fundus imaging with spectral domain optical coherence tomography (SD-OCT) (3D OCT-2000+, Topcon Corporation, Tokyo, Japan). Result: Qualified success was achieved because IOP of both eyes was lower than 21 mmHg under topical medications. Visual field examination was impossible to be performed due to lack of concentration of the child. Conclusion: Life-long close monitoring of patients with ARS and secondary glaucoma is necessary. They often need re-operations and topical medications regimen adjustments. The use of Icare® Home Tonometer (Icare Finland Oy, Vantaa, Finland) for IOP assessment at home from the parents provides additional information concerning the IOP level outside the eye clinic and is important for the proper follow-up.