Choroideremia

Choroideremia (CHM) is an X-linked progressive degeneration of the photoreceptors, retinal pigment epithelium, and choriocapillaris. Affected males experience night blindness, followed by progressive loss of peripheral vision that becomes more evident by the second and third decade of life leading to tunnel vision and often blindness. The early findings in a male with choroideremia are very similar to those of carrier females. Disruption of the retinal pigment epithelia starts in the mid-periphery. The progressive loss of the choriocapillaris results in the exposure of the choroidal vessels. Female carriers can be identified clinically by the presence of patchy areas of atrophy of the retinal pigment epithelium but show no serious visual impairment.

Tests Available

Forms and Documents

Test Details

CHM
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

296
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.5 Congenital anomalies of posterior segment
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
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References

  1. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002 Sep;20(3):189-96.
  2. http://www.retina-international.org/sci-news/repmut.htm
  3. Smaoui N, T.L. McGee, N. Nwokekeh, C.Weigel-DiFranco, B. Rosner, J.F. Hejtmancik, E.L. Berson Mutation Spectrum of the CHM Gene in Patients With Choroideremia. ARVO May 6-10, 2007 Fort Lauderdale, Florida.
  4. Genetic Diseases of the Eye. Ed. Elias I. Traboulsi. New York and Oxford: Oxford University Press, 1998.
  5. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-7.