Glaucoma, Primary Congenital

Glaucoma affects 67 million people worldwide, and represents a heterogeneous group of neurodegenerative disease characterized by optic disc cupping and visual field loss. Untreated, glaucoma is a leading cause of irreversible blindness caused by damage to the optic nerve. The three major types of glaucoma include primary open-angle glaucoma (POAG), primary congenital glaucoma (PCG) and primary acute closed angle glaucoma (PACG). A genetically heterogeneous group of developmental disorders known as anterior segment dysgenesis (ASD) have been reported to be associated with increased intraocular pressure (IOP) and glaucoma. Primary Congenital Glaucoma (PCG) is a form of glaucoma commonly referred to as infantile or congenital glaucoma. The incidence of PCG varies geographically from 1/10,000 in Western countries to 1/2500 in the Middle East. It is the most common form of glaucoma in infants, with more than 80% of cases observed within the first year of life. It typically manifests at birth or within the first year of life, but may manifest as late as three years of age. Characteristic clinical features of PCG include tearing, photophobia, corneal edema and buphthalmos resulting from elevated intraocular pressure, which can rapidly lead to axonal loss and permanent loss of vision in untreated individuals.

Tests Available

Forms and Documents

Test Details

CYP1B1
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

330
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 743.2 Buphthalmos Glaucoma: congenital newborn Hydrophthalmos
  • 365.42 Glaucoma associated with anomalies of iris
  • 365.41 Glaucoma associated with chamber angle anomalies
  • 365.43 Glaucoma associated with other anterior segment anomalies
  • 365.14 Glaucoma of childhood, Infantile or juvenile glaucoma
  • 365.12 Low tension glaucoma
  • 365.10 Open-angle glaucoma, unspecified, Wide-angle glaucoma NOS
  • 365.11 Primary open angle glaucoma, Chronic simple glaucoma
* For price inquiries please email zebras@genedx.com

References

  1. Aung T (2005) Invest Ophthalmol Vis Sci. 46(8):2816-22.
  2. Miyazawa et al., (2007) Molecular Vision 13: 1912-1919.
  3. Weisschuh et al., (2007) Molecular Vision 13:724-729.
  4. Hauser et al., (2006) ) Invest Opht and Vis Sci 47:2542-2546.
  5. Monemi et al., (2005) Hum Mol Genet 14;6: 725-733.
  6. Aung et al., (2005) ) Invest Opht and Vis Sci 46;8: 2816-2822.
  7. Kumar A (2007) Molecular Vision;13:667-676.
  8. Chavarria-Soley G., (2006) Glaucoma; 15(6):499- 504.
  9. B.J. Fan et al., (2006) Clinical Biochemistry 39 231–239.
  10. Stoilov IR., (2002) Invest Opht and Vis Sci;43:1820-1827.
  11. Bejjani BA et al (1998) Am J Hum Genet;62(2):325-33.
  12. Plasilova M., (1999) J Med Genet;36(4):290-4.
  13. Mashima Y., (2001) Invest Ophthalmol Vis Sci;42(10):2211-6.
  14. Rezaie et al. (2002) Science 295:1077-1079.