Norrie Disease

ND is a hereditary disorder characterized by a range of fibrous and vascular changes of the retina at birth. Blindness is commonly present at birth. However, other patients will undergo a clinical progression throughout childhood, which will result in varying degrees of blindness and/or visual impairment. The most severe retinal findings are referred to as pseudogliomas, which are grayish, yellow, fibrovascular masses. These pseudogliomas often result in vitreous hemorrhage. Other reported ocular findings include retinal dysgenesis, retinal detachment, corneal opacities, and cataract. About half of all male patients have developmental delay/mental retardation and about 40% of will develop progressive sensorineural hearing loss beginning in early childhood.

Tests Available

Forms and Documents

Test Details

NDP
  • Confirmation of clinical diagnosis
  • Differential diagnosis: retinopathy of prematurity, persistent hyperplastic vitreous, Coats disease, familial exudative vitreoretinopathy, and idiopathic retinal detachment.
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

3273
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 62.13 Changes in vascular appearance
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Royer G et al., (2003) Hum Mutat 22:499
  2. Schuback DE et al., (1995) Hum Mutat 5:285-92
  3. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  4. Riveiro-Alvarez R et al., (2005) Mol Vis 11:705-712
  5. Kondo H et al., (2007) IOVS 48:1276-1282
  6. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  7. Wu W et al., (2007) Arch Ophthalmol 125:225-230

Forms and Documents

Test Details

NDP
  • Confirmation of clinical diagnosis
  • Differential diagnosis: retinopathy of prematurity, persistent hyperplastic vitreous, Coats disease, familial exudative vitreoretinopathy, and idiopathic retinal detachment.
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

3274
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1
No
Yes
  • 62.13 Changes in vascular appearance
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
  • 743.9 Specified congenital anomalies of anterior chamber, chamber angle, and related structures.
* For price inquiries please email zebras@genedx.com

References

  1. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  2. Riveiro-Alvarez R et al., (2005) Mol Vis 11:705-712
  3. Kondo H et al., (2007) IOVS 48:1276-1282
  4. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  5. Wu W et al., (2007) Arch Ophthalmol 125:225-230
  6. Schuback DE et al., (1995) Hum Mutat 5:285-92
  7. Royer G et al., (2003) Hum Mutat 22:499