Newfoundland Rod-Cone Dystrophy

Newfoundland rod-cone dystrophy (NFRCD) is characterized by night blindness that is present in infancy, along with a progressive loss of peripheral, central and color vision beginning in childhood. The end result is severe vision loss by the second to fourth decade of life. The optic nerve is either normal or minimally pale until a late stage of disease. The macula is normal or may exhibit a “beaten-bronze” atrophy. Young patients also exhibit a perimacular ring of white stippling and a scallop-bordered lacunar atrophy of the mid-peripheral retinal pigment epithelium, which is similar in appearance to early gyrate atrophy or choroideremia.

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

4243
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. Demirci et al., (2004) Am J Ophthalmol 138:171-173
  2. Katsanis et al., (2001) Clin Genet 59:424-429;
  3. Dryja TP; (2000) Am J Ophthalmol 130:547-63
  4. Souied E et al., (1996) Am J Ophthalmol 121:19-25
  5. Kajiwara K et al., (1993) Nat Genet 3:208-212
  6. Humbert et al., (2006) Invest Ophthalmol Vis Sci 47:4719-4724
  7. Maw et al., (1997) Nat Genet 17:198-200
  8. Morimura et al., (1999) Invest Ophthalmol Vis Sci 40:1000-1004
  9. Fishman et al., (2004) Arch Ophthalmol 122:70-75
  10. Eichers et al., (2002) Am J Hum Genet 70:955-964
  11. Burstedt et al., (2001) Arch Ophthalmol 119:260-267
  12. Burstedt et al., (1999) Invest Ophthalmol Vis Sci 40:995-999

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