Enhanced S-Cone Syndrome

Enhanced S-Cone syndrome (ESCS) is an autosomal recessive retinopathy that results in a gain-of-function and excess numbers of S-cone photoreceptors, which makes these patients hypersensitive to blue light. These patients also experience a near absence of function of the majority rod receptor. Patients with ESCS suffer night blindness early in life and experience varying degrees of deficiency in long and middle cone receptor vision. Varying degrees of retinal degeneration is also apparent upon examination.

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