Bothnia retinal dystrophy

Bothnia retinal dystrophy (BRD) is an atypical variant of retinitis pigmentosa diagnosed in individuals who reside in northern Sweden, north of the Gulf of Bothnia, and is historically known as Bothnia Occidentalis. BRD is characterized by severe night blindness in early childhood, retinitis punctata albescens, macular degeneration, and a predilection to develop an atrophic-appearing macular lesion in older age

Tests Available

Forms and Documents

Test Details

RLBP1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified.
  • Capillary Sequencing

Ordering

4241
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Souied E et al., (1996) Am J Ophthalmol 121:19-25
  2. Kajiwara K et al., (1993) Nat Genet 3:208-212
  3. Maw et al., (1997) Nat Genet 17:198-200
  4. Humbert et al., (2006) Invest Ophthalmol Vis Sci 47:4719-4724
  5. Morimura et al., (1999) Invest Ophthalmol Vis Sci 40:1000-1004
  6. Katsanis et al., (2001) Clin Genet 59:424-429
  7. Demirci et al., (2004) Am J Ophthalmol 138:171-173
  8. Fishman et al., (2004) Arch Ophthalmol 122:70-75
  9. Burstedt et al., (2001) Arch Ophthalmol 119:260-267
  10. Eichers et al., (2002) Am J Hum Genet 70:955-964
  11. Burstedt et al., (1999) Invest Ophthalmol Vis Sci 40:995-999
  12. Dryja TP; (2000) Am J Ophthalmol 130:547-63