Rieger Syndrome

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. These non-occular findings include dental hypoplasia, mild craniofacial dysmorphism, and redundant umbilical skin. Cardiac defects, limb anomalies, pituitary abnormalities, sensory hearing loss and/or mental defects may also be present. 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 genes, encoding different transcription factors. In general, mutation in the PITX2 gene has been seen more frequently in patients with ocular and systemic anomalies, whereas mutation in FOXC1 was found in patients with isolated ocular findings

Tests Available

Forms and Documents

Test Details

FOXC1
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1342
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  2. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372
  3. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  6. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  7. Semina et al. (1996) Nat Genet 14:392-399

Forms and Documents

Test Details

DCDC1, ELP4, PAX6, WT1
  • Confirmation of clinical diagnosis
  • Determination of the molecular basis of aniridia in patients at risk for Wilms tumor (Differentiating PAX6 related aniridia from WAGR syndrome)
  • Prenatal diagnosis
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

491
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.45 Aniridia
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Glaser T et al. (1994) Nat Genet 7:463
  2. Tzoulaki I et al. BMC Genetics (2005) 6:27
  3. Gronskov K et al. (2001) Hum Genet 109:11
  4. Vincent MC et al. (2002) Eur J of Hum Genet 11:163
  5. Redeker EJ et al, (2008); Mol Vis. May 7;14:836-40

Forms and Documents

Test Details

PITX2
  • Confirmation of a clinical diagnosis
  • Recurrence risk calculation
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

1341
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Semina et al. (1996) Nat Genet 14:392-399
  2. Hjalt et al. (2005) Expert Reviews in Molecular Medicine 7(25)1-15
  3. Lines et al. (2004) Invest Ophthalmol Vis Sci.Science 45(3):828-833
  4. Perveen et al. (2000) Invest Ophthalmol Vis Sci.41(9):2456-2460
  5. Priston et al. (2001) Human Molecular Genetics 10(16):1631-1638
  6. Mears et al. (1998) Am J Hum Genet 63:1316-1318
  7. Nishimura et al. (2001) American Journal of Human Genetics 68(2):364-372