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

BEST1
  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

403
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | 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

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