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X-linked recessive retinoschisis
Juvenile retinoschisis
XLRS1
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. 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). Although distinct from retinal detachment, retinoschisis may eventually lead to detachment of the retina or retinal atrophy resulting in blindness.
Using genomic DNA obtained from buccal brush samples or blood in EDTA (5cc in lavender top tube), the six exons of the XLRS1 gene are sequenced bi-directionally to evaluate for mutation in the gene. In females without an identifiable mutation by sequencing, focused array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of this gene.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
retinoschisis, juvenile, juvenile retinschisis, X linked, X-linked, eye, ophthalmologic, ophthalmology, macular, macular degeneration, XLRS, XLRS1, XLRS-1, RS1, retinal detachment, retinal atrophy, blind, blindness
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