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.

Disease Explained:

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.

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.