The rare Axenfeld–Rieger syndrome with systemic anomalies: A case report and brief review of literature

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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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