Bestrophinopathy, Autosomal Recessive

Fundus eye exam shows dispersed punctate flecks, which are distinct from the extramacular vitelliform lesions. These patients also have an accumulation of fluid within and/or beneath the neurosensory retina in the macular region. These patients are hyperopic and may also have angle closure glaucoma. Other typical features include a severe reduction in the EOG light rise and a reduced or delayed response for both cones and rods on full-field ERGs. These patients do not have vitelliform lesions

Tests Available

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis

Ordering

TA87
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81406x1
No
Yes
  • 743.55 Congenital macular changes
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Lafaut et al., (2001) Arch Clin Exp Ophthalmol 239:575-582
  2. Seddon et al., (2001) Ophthalmology 108:2060-2067
  3. White et al., (2000) Hum Mutat 15:301-308
  4. Yardley et al., (2004) Invest Ophthalmol Vis Sci 45:3683-3689
  5. Kramer et al., (2000) Eur J Hum Genet 8:286-292
  6. Kramer et al., (2003) Hum Mutat Mutation in Brief #660 Online
  7. Burgess et al., (2009) J Med Genet 46:620-625
  8. Davidson et al., (2009) Am J Hum Genet 85:581-592
  9. Burgess et al., (2008) Am J Hum Genet 82:19-31
  10. Boon et al., (2009) Progress in Retinal and Eye Research 28:187-205