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

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

Ordering

TB05
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

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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*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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