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

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


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


  • 362.73 Vitreoretinal dystrophies, Juvenile retinoschisis
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  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)