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

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
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  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

Forms and Documents

Test Details

ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CDH3, CDHR1, CEP290, CERKL, CNGA3, CNGB3, CRX, DRAM2, ELOVL4, GUCA1A, GUCY2D, PAX6, PITPNM3, POC1B, PROM1, RAB28, RAX2 (QRX), RDH5, RDS (PRPH2), RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5
  • Deceased visual acuity, photophobia, and loss of color vision in childhood
  • Issues with reading, focusing on an image, or blind spots in central vision (scotomas)
  • Subsequent night blindness, central vision loss, and peripheral vision loss in later stages
  • Signs of nystagmus with progression of disease
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

J956
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x2; 81408x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
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  6. Littink et al., (2010) 51(11):5943-5951
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  8. Boulanger-Scemama et al., (2015) Orphanet J Rare Dis 10: 85
  9. Roosing S et al., (2014) Prog Retin Eye Res 42:1-26
  10. El-Haig WM et al,. (2014) Br J Opthalmol 98(12): 1718-23
  11. Aboshiha et al., (2015) Opthalmology 122:862-864
  12. Rahner et al., (2016) Opthalmic Genet 37(3): 294-300
  13. Khan and Bolz (2016) Opthalmic Genet 37(3): 301-6
  14. Sprecher et al., (2001) Nature Genet 29: 134-136
  15. Nikopoulos K (2015) Sci Rep 5:13902
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  20. Durlu YK et al., (2014) JAMA Opthalmol 132(10) 1185-91
  21. Beryozkin A (2014) Invest Opthalmol Vis Sci 52(2): 1149-60
  22. Riveiro-Alvarez (2015) JAMA Opthalmol 133(2):133-9
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  27. Yang et al., (2015) JAMA Opthalmol 133(6):653-61
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  34. Dansault et al. (2007) Molecular Vision 13 :511-23