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

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.

Figure 1

Ocular traits of the recruited patient. Biomicroscopic photograph of the anterior segment showed that corneal edema with characteristic corneal posterior embryotoxon and iris changes of stromal hypoplasia with irregular-shaped pupils of her right eye (A upper). The traits of the left anterior segment included stromal hypoplasia and irregular-shaped pupil (B upper). The fundus photography of bilateral eyes was not clear because of corneal edema and cataract (A, B lower).

Figure 2

Corneal specular microscopy of bilateral eyes performed in the patient. There were almost no normal-shaped corneal endothelium present and the corneal endothelium count of both eyes was 0 cells/mm².

Figure 3

The systemic traits of the reported patient. There were midface hypoplasia, hypertelorism, and telecanthus present in this patient (A). She had a history of dental abnormalities of hypodontia of the maxillary anterior teeth in both primary and permanent dentition and received orthodontic treatment at 15-year-old (B). Other physical examinations showed redundant periumbilical skin (C).