Retinoschisis, Juvenile X-Linked

X-linked retinoschisis is the most common cause of juvenile retinal degeneration in males usually presenting between age 5 and 10 years, and resulting in decreased visual acuity during childhood and adolescence. Vision after that period generally stabilizes at 20/60-20/120, although progressive visual deterioration often occurs later in life. The disorder is characterized by splitting of the nerve fiber layer in the retina. Eye findings include macular schisis, often in a spoke-like pattern; peripheral (usually inferotemporal) schisis in about 50% of subjects; “vitreous veils”; and a decreased b-wave with an intact a-wave on electroretinogram (ERG). The prevalence is estimated to be between 1/5,000 and 1/25,000 males. Although distinct from retinal detachment, retinoschisis may eventually lead to detachment of the retina or retinal atrophy resulting in blindness.

Tests Available

Forms and Documents

Test Details

XLRS1 (RS1)
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

2571
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 362.73 Vitreoretinal dystrophies, Juvenile retinoschisis
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References

  1. The Retinoschisis Consortium, Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis, Human Molecular Genetics 7:1185-1192 (1998)
  2. Hiriyanna, K.T. et al., Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change, Human Mutation 14:423-427 (1999)
  3. Sieving PA et al., Juvenile Retinoschisis: A Model For Molecular Diagnostic Testing of X-Linked Ophthalmic Disease, Am Ophth Soc Vol XCV11 (1999)