Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome - Takeaways - MDSpire

Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome

  • By

  • Bin Lin

  • Li Li

  • Dong-kan Li

  • June 8, 2026

  • 0 min

Share

  • 1

    A novel FOXC1 variant c.311T>G (p.Ile104Ser) was identified in a Chinese family affected by Axenfeld-Rieger syndrome.

  • 2

    The proband and his sister were initially misdiagnosed with juvenile-onset open-angle glaucoma due to overlapping symptoms.

  • 3

    Clinical evaluations revealed anterior segment dysgenesis and characteristic facial features consistent with Axenfeld-Rieger syndrome.

  • 4

    The identified FOXC1 variant was absent in the East Asian population and predicted to be highly deleterious.

  • 5

    Incomplete penetrance was observed in the unaffected father, highlighting the phenotypic complexity of FOXC1-related disorders.

Original Source(s)

Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome

  • by Bin Lin, Li Li, Dong-kan Li

  • June 8, 2026

Related Content

Bigger Databases, Better Glaucoma Detection?

Expanding OCT reference databases could improve the consistency of diagnostic thresholds and reduce missed glaucoma cases, study finds

  • April 21, 2026

  • 3 min
The Myopia Control Kit

Thomas Aller, OD, provides in-depth overviews of each myopia management option—pharmacologic therapy, soft contact lenses, orthokeratology, spectacle lenses, and environmental and behavioral interventions—so clinicians can not only provide the right option to each patient, but also address the larger economic and societal burdens of myopia.

Postoperative Changes in Retinal Vessel Diameter and Optic Disc Morphology Following Glaucoma Surgery in Pediatric Patients: A Quantitative Analysis Using Fundus Photography