Anterior Segment Dysgenesis

Anterior segment dysgenesis (ASD) disorders can involve multiple ocular tissues, such as the iris, cornea and lens. Depending on the clinical presentation, these disorders can often be classified into different subtypes. Several subtype examples include Peters’ anomaly, which is identified by central corneal opacity and defects of Descemet’s membrane and corneal endothelium; posterior embryotoxon, which involves a thickening and opacity at Schwalbe’s ring; and aphakia, which is defined by the absence of the ocular lens. Mutations in the FOXE3 gene have been associated with a variety of anterior segment dysgenesis disorders including those previously mentioned and others such as congenital cataracts, sclerocornea and coloboma. In addition, FOXE3 mutations have also been observed in non-syndromic microphthalmia. Although FOXE3 disorders can be inherited in either an autosomal dominant or recessive pattern, the disease presentation is typically more severe in individuals who are homozygous or compound heterozygotes for recessively-inherited mutations.

Tests Available

Forms and Documents

Test Details

FOXE3
  • Confirmation of a clinical diagnosis
  • Carrier detection in families with a recessive pattern of inheritance
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

604
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | 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., (2001) Human Molecular Genetics. 10(3):231-236.
  2. Reis et al., (2010) Am J Med Genet. 152A(3)582-590.
  3. Bremond-Gignac et al., (2010) Molecular Vision. 16:1705-1711.
  4. Ali et al., (2010) Molecular Vision. 16:1162-1168.
  5. Doucette et al., (2011) European Journal of Human Genetics. 19:293-299.
  6. Iseri et al., (2009) Human Mutation. 30(10): 1378-1386.

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