Learn About the Diagnosis & Treatments of Juvenile Retinoschisis

Learn About the Diagnosis & Treatments of Juvenile Retinoschisis
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Definition

Juvenile retinoschisis is a genetic disorder that impairs vision. Vision is impaired because the condition affects the cells of the macula, which is the central area of the retina. Because the macula is responsible for visual acuity (the sharpness of vision), this condition makes it difficult to read, drive, and recognize faces. This condition is a type of macular degeneration, which usually affects elderly people.

Prevalence & Incidence

Males are affected by this genetic disorder much more often than women. One in 5,000 to 25,000 males worldwide have X-linked juvenile retinoschisis, according to the Genetics Home Reference of the National Institutes of Health.

Genetics

Most cases of this condition occur as the result of an RS1 gene mutation. This gene encodes instructions for producing retinoschisin, which is a protein found in the retina. Researchers believe that this protein is integral to normal development and maintenance of the retina. This protein may also play a role in the specialized retinal cells that detect color and light. The reduced amount of retinoschisin causes tears or splits in the retina. Treatments of juvenile retinoschisis cannot repair the damage to the RS1 gene.

The gene for this condition is located on the X chromosome. In males, who have one X chromosome and one Y chromosome, one mutated copy of the gene can cause this disorder. Females have two X chromosomes, which means that both copies of the gene must be damaged to cause juvenile retinoschisis. It is very unlikely that both copies of the gene would have alterations, so males get this disorder much more frequently.

Diagnosis

An ophthalmologist must consider a patient’s visual acuity, family history, and other factors before diagnosing this disorder. Eye examination may reveal macular swelling, tears in the retina, or retinal detachment.

Treatment

As of December 2009, there are no treatments of juvenile retinoschisis available. If the retina becomes detached, surgery can repair the damage. Adaptive aids, mobility training, and other training programs can help people with vision loss adjust to their surroundings. Researchers are working to determine if gene therapy can repair the damage to the RS1 gene that causes this disorder.

References

The University of Michigan Kellogg Eye Center: Retinoschisis. Accessed December 30, 2009.

Genetics Home Reference: X-Linked Juvenile Retinoschisis. Accessed December 30, 2009.