Axenfeld-Rieger Syndrome with Glaucomatous Progression Following Treatment Non-adherence : A Case Report

Abstract

Background: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder caused by mutations in developmental transcription factors FOXC1 or PITX2. A 22-year-old female presented with bilateral ocular pain and headaches following a 6-month hiatus in antiglaucoma therapy. Ocular examination revealed posterior embryotoxon, angle dysgenesis (IOP: 28.0 mmHg OD, 25.0 mmHg OS), and severe refractive errors (-12.50 D OD, -14.50 D OS). Systemic evaluation identified dental microdontia, maxillary hypoplasia, broad nasal bridge and brachydactyly, consistent with ARS diagnostic criteria. Treatment with Brimonidine tartrate 0.2% + Timolol maleate 0.5% eye drop (twice daily, both eyes) initiated, achieving target IOP. The patient counselling done regarding the chronic nature of the disease and the importance of treatment adherence. This case underscores the critical consequences of treatment non-adherence in ARS-associated glaucoma and reinforces the need for counselling and lifelong IOP monitoring. While genetic testing remains valuable for family counseling, careful clinical phenotyping may suffice for diagnosis in resource-limited settings.