Retinitis Pigmentosa, Autosomal Recessive (arRP)

Retinitis Pigmentosa (RP) is a group of disorders involving progressive degeneration of the retina that leads to severe visual impairment. The age of onset of visuals symptoms is variable from early childhood to adulthood and is usually more severe if the disorder is inherited as an autosomal trait. The disorder usually manifests with decline and loss of night vision during adolescence, followed by loss of peripheral vision in young adulthood, and loss of central vision in later life due to the progressive loss of rod and cone photoreceptors. Common symptoms include night blindness and a decreasing visual field, leading to tunnel vision, legal blindness or, in many cases, complete blindness. Clinical hallmarks are an abnormal fundus with bone-spicule deposits and attenuated retinal vessels. The electroretinogram (ERG) findings in RP patients show reduced rod and cone response amplitudes, which is moderate in dominant inheritance and barely detectable in recessive and X-linked patients.

Tests Available

Forms and Documents

Test Details

CERKL
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Genetic counseling
  • Capillary Sequencing

Ordering

506
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Thiadens et al., (2010) Ophthalmology 117(4):825- 30
  2. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  3. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  4. Rivolta C et al., (2001) Hum Mutat 18: 488-498
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  15. Kitiratschy et al., (2009) Human Mutation 30:E782-E796
  16. Littink et al., (2010) Invest Ophthalmol Vis Sci 51(11):5943-5951
  17. Wissinger et al., (2001) Am J Hum Genet 69:722-737

Forms and Documents

Test Details

CNGA1
  • Confirmation of a clinical diagnosis
  • To differentiate ARRP, adRP, and X-linked RP from other forms of retinal dystrophy and retinal degeneration
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

417
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Danciger M et al., (1996) Mol Vis 2:10
  2. den Hollander et al., (1999) Nat Genet 23:217–221
  3. den Hollander et al., (2001) Am J Hum Genet 69:198–203
  4. den Hollander et al., (2004) Hum Mutat 24:355-69
  5. Dreyer B et al., (2001) Am J Hum Genet 69:228-34
  6. Dreyer B et al., (2008) Hum Mutat 29:451
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  26. Collin RWJ (2009) ARVO meeting, May3-7, Fort Lauderdale, FL
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  28. Cremers FPM et al., (1998) Hum Molec Genet 7:355-362
  29. Booij JC (2005) J Med Genet 42:e67
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  32. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  33. Allikmets et al., (1998) Gene 215: 111- 122
  34. Abd El-Aziz MM et al., (2008) Nat Genet 40:1285-7
  35. Abd El-Aziz MM et al., (2007) Ann Hum Genet 71:281-94

Forms and Documents

Test Details

(GJC3), GCSH, GDF1, GDF3, GDF6, GFER, GJA1, GJA8, GJB2, GJB6, GJE1, GLB1, GLDC, GLIS2, GLIS3, GM2A, GMPPA
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with retinal dystrophies
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J905
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81434x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)