Goldmann-Favre Syndrome

Goldmann-Favre syndrome: is an autosomal recessive disorder. Patients with Goldmann-Favre syndrome typically experience retinoschisis or edema of the macula, pigmentary degeneration of the retina, hemeralopia, liquefied vitreous body with pre-retinal structures, and extinguished electroretinogram. Cataract is also a common feature.

Tests Available

Forms and Documents

Test Details

NR2E3
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

586
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
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References

  1. Audo et al., (2008) Invest Ophthalmol Vis Sci 49:2082-2093
  2. Bandah et al., (2009) Arch Ophthalmol 127(3):297-301
  3. Coppieters et al., (2007) Am J Hum Genet 81:147-157
  4. Solnas et al., (2008) Clin Genet 73:360-366
  5. Wright et al., (2004) Hum Mutat #756 Online