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:
Carriers typically show no symptoms of X-linked juvenile retinoschisis; however, carriers are at an increased risk of having a child with X-linked juvenile retinoschisis. Because this disease is X-linked, risk for the current or future pregnancies is sex-dependent. Consultation with a genetic counselor is recommended.
X-linked juvenile retinoschisis is an inherited condition that causes the retina of the eye to split or develop cysts or lesions over time. This causes progressive vision loss during childhood and adolescence. Vision usually stabilizes in an affected individual’s twenties, but may deteriorate again in middle age and eventually give way to legal blindness. There 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. Lifespan is not affected.
How the Genetics Works:
The clinical features of X-linked juvenile retinoschisis can be explained by pathogenic variants in the RS1 gene. Women have two copies of the RS1 gene and can be unaffected carriers of X-linked juvenile retinoschisis by posessing a single variant in one copy of the RS1 gene. Men have one copy of the X chromosome, so they have one copy of the RS1 gene. If they inherit a variant in the RS1, they will have X-linked juvenile retinoschisis. Sons of carrier women have a 50% chance of having X-linked juvenile retinoschisis, while daughters will never have this disease unless their father also has the disease. As a result of this inheritance pattern, this disease primarily affects males.
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