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

BackgroundJuvenile-onset open-angle glaucoma (JOAG) is a heterogeneous early-onset glaucoma subtype. Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder caused by FOXC1 variants, which may present with severe early-onset glaucoma and can be clinically mistaken for JOAG. This study aimed...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Bin Lin, Li Li, Dong-kan Li
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2026-06-01
Schriftenreihe:Frontiers in Medicine
Schlagworte:
Axenfeld-Rieger syndrome
FOXC1
incomplete penetrance
juvenile-onset open-angle glaucoma
novel variant
whole-exome sequencing
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fmed.2026.1868263/full
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