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

Medicine (Baltimore)

Department of Ophthalmology, Jiaxing Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University, Jiaxing, Zhejiang Province Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Dongcheng District, Beijing, China.

Published: August 2017

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571701PMC
http://dx.doi.org/10.1097/MD.0000000000007791DOI Listing

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