Axenfeld–Rieger (AR) malformations are autosomal dominant developmental defects of the
anterior segment of the eye, and often result in glaucomatous blindness. AR malformations …

Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of
developmental disorders affecting primarily the anterior segment of the eye, often leading to …

Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental
conditions affecting anterior ocular structures and associated with an increased risk for …

Axenfeld–Rieger ocular dysgenesis is associated with mutations of the human PITX2 and
FOXC1 genes, which encode transcription factors of the homeodomain and forkhead types …

purpose. To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical
phenotypes in a cohort of German patients with Axenfeld-Rieger malformations. methods. All …

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder, which
encompasses a range of congential malformations affecting the anterior segment of the eye …

purpose. To improve the understanding of Axenfeld-Rieger Malformation (ARM)–associated
glaucoma and to determine the best glaucoma treatment for patients with ARM who have …

purpose. Mutations of the homeodomain protein PITX2 produce Axenfeld-Rieger (AR)
malformations of the anterior chamber, an autosomal dominant disorder accompanied by a …

Disease‐causing mutations affecting either one of the transcription factor genes, PITX2 or
FOXC1, have been previously identified in patients with Axenfeld‐Rieger syndrome (AR) …

Axenfeld–Rieger syndrome (ARS) is an autosomal dominant condition characterized by
ophthalmologic anterior segment abnormalities and extraocular findings including dental …