The rare Axenfeld–Rieger syndrome with systemic anomalies
نویسندگان
چکیده
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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A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
PURPOSE To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and bu...
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