Familial Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy (FEVR) is a hereditary disorder characterized by impaired vascularization of parts of the peripheral retina leading to various secondary complications, such as retinal neovascularization, dragged macula, exudation vitreous hemorrhage, retinal fold and retinal detachment. The most serious complications may result in complete blindness. To detect subtle retinal changes, intravenous fluorescein angiography is required. In addition, reduced mass bone density predisposing to bone fractures has been reported in FEVR patients with dominant LRP5 mutations (Toomes, 2004).

Tests Available

Forms and Documents

Test Details

FZD4
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differential diagnosis includes retinopathy of prematurity (ROP), Coats disease, persistent fetal vasculature syndrome, Norrie’s disease, and idiopathic retinal detachment.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

3271
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
* For price inquiries please email zebras@genedx.com

References

  1. Chung et al., (2008) Hum Mutat 30:4, 641-648
  2. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  3. Kondo H et al., (2007) IOVS 48:1276-1282
  4. Qin M et al., (2005) Hum Mutat; 26(2):104-12
  5. Riveiro-Alvarez R et al., (2005) Molec Vis 11:705-712
  6. Jiao X (2004) Hum. Genet. 75:878–884
  7. Nallathambi J et al., (2006) Mol Vis; 12: 1086–92
  8. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  9. Kondo H (2003) Br J Ophthalmol; 87:1291–1295

Forms and Documents

Test Details

LRP5
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differentiation of FEVR from retinopathy of prematurity (ROP) and Coats disease
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

3272
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
* For price inquiries please email zebras@genedx.com

References

  1. Kondo H et al., (2003) Br J Ophthalmol 87:1291–95
  2. Toomes C et al., (2004) Am J Hum Genet 74:721–30
  3. Jiao X et al., (2004) Hum Genet 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis 12:1086–92
  5. Qin M et al., (2005) Hum Mutat 26:104-12
  6. Ai M et al., (2005) Am J Hum Genet 77:741-753
  7. Gong Y et al., (2001) Cell 107:513-523
  8. Janssens K et al., (2002) Hum Mol Genet 11:2385-93
  9. Van Wesenbeek L et al., (2003) Am J Hum Genet 72:763-771
  10. Chung B et al., (2009) Hum Mutat 30:641-648
  11. Balemans W et al., (2007) Endocrinology 148:2622-2629
  12. Hartikka H et al., (2005) J Bone Miner Res 20:783–789
  13. Crabbe P et al., (2005) J Bone Miner Res 20:1951–1959

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

Forms and Documents

Test Details

TSPAN12
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Differential diagnosis includes retinopathy of prematurity (ROP), Coats disease, persistent fetal vasculature syndrome, Norrie’s disease, and idiopathic retinal detachment.
  • Prenatal diagnosis in families, in which the pathogenic mutation(s) have been identified
  • Capillary Sequencing

Ordering

3275
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 362.13 Changes in vascular appearance, Vascular sheathing of retina
  • 362.12 Exudative retinopathy Coats' syndrome
  • 362.16 Retinal neovascularization NOS, Neovascularization: choroidal subretinal
* For price inquiries please email zebras@genedx.com

References

  1. Kondo H (2003) Br J Ophthalmol; 87:1291–1295
  2. Toomes C et al., (2004) Am J Hum Genet; 74: 721–30
  3. Jiao X (2004) Hum. Genet. 75:878–884
  4. Nallathambi J et al., (2006) Mol Vis; 12: 1086–92
  5. Qin M et al., (2005) Hum Mutat; 26(2):104-12
  6. Riveiro-Alvarez R et al., (2005) Molec Vis 11:705-712
  7. Kondo H et al., (2007) IOVS 48:1276-1282
  8. Dickinson J et al., (2006) Clin and Exp Ophthalmol 34:682-688
  9. Chung et al., (2008) Hum Mutat 30:4, 641-648