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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina. The protein is probably involved in the organization of cells in the retina by attaching cells together (cell adhesion).

RS1 gene mutations result in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of cells in the retina. As a result, tiny splits (schisis) or tears form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In half of affected individuals, these abnormalities can occur in the area of the macula, affecting visual acuity, in the other half of cases the schisis occurs in the sides of the retina, resulting in impaired peripheral vision.

Some individuals with X-linked juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes X-linked juvenile retinoschisis?"},{"bodyHtml":"

X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness.

Source: MedlinePlus Genetics

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