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Axenfeld-Rieger Syndrome
Rieger Syndrome

  • PITX2 (Pituitary Homeobox Transcription Factor 2)
  • FOXC1 (Forkhead Box Transcription Factor C1)
Axenfeld-Rieger syndrome (ARS) represents a spectrum of diseases that involve congenital anomalies of the anterior segment of the eyes. In addition, about 50% of patients will develop glaucoma, leading to decline of vision and potential blindness. The most prominent eye defects in ARS include (1) Axenfeld anomaly, characterized by a prominent Schwalbe's line and adherence of the iris to the cornea and trabecular meshwork, (2) Rieger anomaly, consistent with Axenfeld anomaly plus iris hypoplasia, eccentric pupils (corectopia) and/or iris holes (polycoria) and (3) Rieger syndrome, which includes Rieger anomaly as well as the non-ocular symptoms. Non-occular findings include dental hypoplasia, craniofacial dysmorphism, redundant umbilical skin, cardiac defects, limb anomalies, pituitary abnormalities, sensory hearing loss and/or mental defects. Additional disorders such as iridogoniodysgenesis, iris hypoplasia and Peter's anomaly fall under the umbrella of ARS. ARS is fully penetrant but shows variable expression, even within a family. ARS may be caused by mutation in one of several different genes, the most common of which are the PITX2 and FOXC1, each of which encodes a transcription factor. In general, mutation in the PITX2 gene is seen more frequently in patients with ocular and systemic anomalies, whereas mutation in FOXC1 is found in patients with isolated ocular findings.

Sequencing of the FOXC1 and PITX2 genes is offered as separate tests. Using genomic DNA obtained from blood (2-5cc in EDTA), bi-directional sequence of the coding region and splice junctions of the FOXC1 gene (one coding exon) and PITX2 gene (exons 1-4) is analyzed.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Eye, Axenfeld, Rieger, Rieger Syndrome, Rieger anomaly, Reiger syndrome, Reiger anomaly, Peters anomaly, Peter's anomaly, iris hypoplasia, polycoria, iridogoniodysgenesis, iris dysplasia, aniridia, hypodontia, hypospadius, strabismus, megalocornea, hearing loss

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