Congenital Stationary Night Blindness, Autosomal Recessive

Congenital stationary night blindness (CSNB) is a group of congenital retinal dystrophies currently associated with two X-linked genes (NYX, CACNA1F), six autosomal recessive genes (CABP4, GRK1, GRM6, RDH5, SAG, TRPM1), and three autosomal dominant genes (GNAT1, PDE6B, RHO). CSNB can be subcategorized into two subgroups,“complete” or “incomplete,” defined by the presence or the absence of residual rod function measured by dark adaptometry or electroretinogram (ERG). The NYX and the TRPM1 gene mutations are mainly responsible for the complete form of CSNB. Patients with complete X-linked CSNB usually have high myopia with a tigroid-appearing fundus. Some patients have mild nystagmus. All patients with stationary night blindness have an abnormal dark-adaptation curve and an abnormal ERG. The ERG demonstrates a severely reduced or absent dark-adapted rod-mediated b-wave response (Pusch et al., 2000 and Bech-Hansen et al., 2000). In particular, this analysis will produce a subnormal ratio of b-wave to a-wave amplitude when using a white flash in the dark (Pusch et al., 2000 and Bech-Hansen et al., 2000). Reduced oscillatory potentials and cone ERGs that are normal to mildly abnormal are also typical findings (Pusch et al., 2000 and Bech- Hansen et al., 2000). CSNB, Leber congenital amaurosis (LCA), and complete achromatopsia are three types of congenital retinal dystrophies that overlap clinically, as all patients present in early childhood with visual impairment and nystagmus.

Tests Available

Forms and Documents

Test Details

CABP4
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

590
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  2. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  3. Dryja et al., (1993) Nat Genet 4:280-283
  4. al-Jandal et al., (1999) Human Mutation 13:75-81
  5. Yamamoto H et al., (1999) Nat Genet 22:188-91
  6. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  7. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  8. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Dryja et al., (1996) Nat Genet 13(3):358-60
  11. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  12. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Xiao et al., (2006) J Hum Genet 51:634-640
  15. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  16. Li et al., (2009) Am J Hum Genet 85:711-719
  17. Audo et al., (2009) Am J Hum Genet 85: 720-729
  18. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  19. Fuchs et al., (1995) Nat Genet 10:360-362
  20. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501

Forms and Documents

Test Details

GRM6
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation.
  • Capillary Sequencing

Ordering

588
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  2. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  3. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  4. Fuchs et al., (1995) Nat Genet 10:360-362
  5. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  6. Audo et al., (2009) Am J Hum Genet 85: 720-729
  7. Li et al., (2009) Am J Hum Genet 85:711-719
  8. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  9. Xiao et al., (2006) J Hum Genet 51:634-640
  10. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  11. Pusch et al., (2000) Nat Genet 26:324-327
  12. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  13. Yamamoto H et al., (1999) Nat Genet 22:188-91
  14. al-Jandal et al., (1999) Human Mutation 13:75-81
  15. Dryja et al., (1993) Nat Genet 4:280-283
  16. Szabo V et al., (2007) Hum Mutat 28(7):741-2
  17. Naeem MA et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  18. Dryja et al., (1996) Nat Genet 13(3):358-60
  19. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  20. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35

Forms and Documents

Test Details

RDH5
  • Confirmation of a clinical diagnosis.
  • Differential diagnosis: Dietary vitamin A deficiency, vitamin A deficiency resulting from a lack of lipoprotein (Bassen-Kornzweig syndrome), a lack of serum retinoid-binding protein, gyrate atrophy or choroideremia.
  • Carrier testing for family members of an affected individual with known mutation(s).
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

427
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Yamamoto H et al., (1999) Nat Genet 22:188-91
  2. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  3. Liden et al., (2001) J Biol Chem 276(52):49251-7
  4. Driessen et al., (2001) Ophthalmology 108(8):1479-
  5. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  6. Dryja TP (2000) Am J Ophthalmol 130(5):547-63
  7. Niwa et al., (2005) Invest Ophthalmol Vis Sci 46(4):1480-5

Forms and Documents

Test Details

SAG
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

517
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. Dryja et al., (1993) Nat Genet 4:280-283
  2. al-Jandal et al., (1999) Human Mutation 13:75-81
  3. Yamamoto H et al., (1999) Nat Genet 22:188-91
  4. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  5. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  6. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  7. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  8. Fuchs et al., (1995) Nat Genet 10:360-362
  9. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  10. Li et al., (2009) Am J Hum Genet 85:711-719
  11. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
  12. Xiao et al., (2006) J Hum Genet 51:634-640
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  15. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32

Forms and Documents

Test Details

SAG
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

518
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. al-Jandal et al., (1999) Human Mutation 13:75-81
  2. Dryja et al., (1993) Nat Genet 4:280-283
  3. Yamamoto H et al., (1999) Nat Genet 22:188-91
  4. Nakamura et al. (2003) Doc Ophthalmol 107(1):3-11
  5. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  6. Yamamoto et al., (1997) Nat Genet 15(2):175-178
  7. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  8. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  9. Fuchs et al., (1995) Nat Genet 10:360-362
  10. Li et al., (2009) Am J Hum Genet 85:711-719
  11. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  12. Bech-Hansen et al., (2000) Nat Genet 26: 319-323
  13. Pusch et al., (2000) Nat Genet 26:324-327
  14. Xiao et al., (2006) J Hum Genet 51:634-640
  15. van Genderen et al., (2009) Am J Hum Genet 85: 730-736

Forms and Documents

Test Details

TRPM1
  • Confirmation of a clinical diagnosis.
  • Development of an appropriate management plan.
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

489
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 368.63 Abnormal dark adaptation curve, Abnormal threshold of cones or rods, Delayed adaptation of cones or rods
  • 368.61 Congenital night blindness, Hereditary night blindness, Oguchi's disease
* For price inquiries please email zebras@genedx.com

References

  1. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  2. Audo et al., (2009) Am J Hum Genet 85: 720- 729
  3. Li et al., (2009) Am J Hum Genet 85:711-719
  4. Xiao et al., (2006) J Hum Genet 51:634-640
  5. Pusch et al., (2000) Nat Genet 26:324-327
  6. Bech-Hansen et al., (2000) Nat Genet 26: 319-323

Forms and Documents

Test Details

CABP4, CACNA1F, CHM, GNAT1, GRM6, NYX, PDE6B, RDH5, RHO, RPE65, SAG, TRPM1
  • Nonprogressive difficulty seeing in low light, existing from birth
  • Reduced visual acuity, myopia, and occasionally nystagmus and strabismus
  • Asymptomatic mothers with affected sons (X-linked inheritance)
  • Exon Array Dx
  • Next-Gen Sequencing

Ordering

J959
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

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

References

  1. Xiao et al., (2006) J Hum Genet 51:634-640
  2. Bech-Hansen et al., (2000) Nat Genet 26: 319- 323
  3. Pusch et al., (2000) Nat Genet 26:324-327
  4. Li et al., (2009) Am J Hum Genet 85:711-719
  5. Audo et al., (2009) Am J Hum Genet 85: 720-729
  6. van Genderen et al., (2009) Am J Hum Genet 85: 730-736
  7. Fuchs et al., (1995) Nat Genet 10:360-362
  8. Nakazawa et al., (1998) Arch Ophthalmol 116:498-501
  9. Nakamura et al., (2004) American Academy of Ophthalmology 111(7):1410-1414
  10. Jalkanen et al., (2007) Invest Opthalmol Vis Sci 48:2498-502 (PMID: 17525176)
  11. Nakamura et al., (2000) Invest Ophthalmol Vis Sci 41(12):3925-32
  12. Nakamura et al., (2003) Doc Ophthalmol 107(1):3-11
  13. Wutz et al., (2002) Eur J Hum Genet 10:449-56 (PMID: 12111638)
  14. al-Jandal et al., (1999) Human Mutation 13:75-81
  15. Dryja et al., (1993) Nat Genet 4:280-283
  16. Szabo et al., (2007) Hum Mutat 28(7):741-2
  17. Naeem et al., (2012) Invest Ophthalmol Vis Sci 53(3):1353-61
  18. Zeitz C (2006) Am J Hum Genet 79(4):657-67
  19. Zeitz C (2005) Invest Ophthalmol Vis Sci 46(11):4328-35
  20. Manes et al., (2014) PLoS 9(4):e95768
  21. Gopalakrishna et al. (2017) Cell. Signal. 37 :74-80
  22. Vincent et al., (2016) Am J Hum Gen 98(5):1011-1019
  23. Peachey et al., (2012) Am J Hum Gen 90(2):331-
  24. Audo et al., (2012) Am J Hum Gen 90(2):321-30
  25. Zeitz et al (2013) Am J Hum Gen 92:67-75
  26. Riazuddin et at., (2010) Am J Hum Gen 87(4): 523-31
  27. Neuille et al., (2016) Clin Genet 89: 690-699
  28. Esposito et al. (2011) Human Mutation 32 (12):1460-9
  29. Morimura et al. (1998) Proc. Natl. Acad. Sci. U.S.A. 95 (6):3088-93
  30. den Hollander et al. (2008) Prog Retin Eye Res 27 (4):391-419
  31. Dryja et al., (2005) Proc Natl Acad Sci U.S.A. 102:4884-9
  32. Zeitz et al. (2015) Prog Retin Eye Res 45 :58-110 (PMID: 25307992)