What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
X-Linked Juvenile Retinoschisis
What Your Test Results Mean:
Test results indicate that you are a carrier of X-linked juvenile retinoschisis. Female carriers typically show no symptoms; however, carriers are at an increased risk of having a child with X-linked juvenile retinoschisis. Risk for the current or future pregnancies is sex dependent. Consultation with a genetic counselor for a more detailed risk assessment is recommended.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
X-linked juvenile retinoschisis is an inherited condition that occurs almost exclusively in males. This condition is characterized by damage to the retina of the eye that causes progressive vision loss during childhood and adolescence. This condition is typically diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. Vision usually stabilizes in an affected individual’s twenties but may deteriorate again in middle age and eventually give way to legal blindness.
X-linked juvenile retinoschisis does not affect lifespan. However, affected individuals will have vision problems that may result in legal blindness after middle age.
TThere is no cure for X-linked juvenile retinoschisis, but tools such as eyeglasses, magnifying glasses, high-contrast reading material, and adaptive software can help affected individuals cope with poor vision. All affected individuals should be followed by an ophthalmologist throughout their life, beginning in childhood. Additionally, affected individuals should avoid high contact sports and other activities that might cause a hard blow to the head to minimize the risk of retinal detachment or bleeding in the eye.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results