The rare Axenfeld–Rieger syndrome with systemic anomalies

Wei-liang Song,Xiaodan Hu

Published 2017 in Medicine

ABSTRACT

Rationale: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. Patient concerns: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. Diagnoses: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. Interventions: A pars plana vitrectomy was performed to manage the retinal detachment. Outcomes: Her best-corrected visual acuity was slightly improved after surgery. Lessons: ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.

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