What is Juvenile Retinoschisis

Juvenile retinoschisis is a genetic condition that causes vision loss. It usually affects both eyes. It happens when the light-sensing cells at the back of the eye (retina) split from the layer of cells that send vision signals to the brain.

Fluid-filled sacs (cysts) can form in these split areas, which thickens the retina. These changes affect the type of vision that is needed to focus straight ahead (central vision). A child who has this condition may have trouble seeing fine details. Side vision can also be affected if splits and cysts form in the outer areas of the retina.

Symptoms of this condition usually start at about 5 years of age. In some cases, the condition can lead to other problems, such as bleeding into the eye or separation of the retina from the back of the eye (retinal detachment). If this happens, it can cause more severe vision loss or even blindness.

What are the causes?

This condition is caused by a defect in a gene (mutation) that is usually passed from a mother to her child (inherited). The gene is only located on the X chromosome, one of the two sex chromosomes. For some people, the cause is not known.

What increases the risk?

This condition is more likely to develop in:

• Boys.
• A child whose mother has the gene mutation. The parent who has the mutation is called a carrier.

What are the signs or symptoms?

The first symptom of this condition may be trouble seeing details clearly in central vision. Other symptoms include:

• Loss of side vision (peripheral vision).
• Abnormal, uncontrolled, side-to-side eye movements (nystagmus).
• Eyes that turn inward (crossed eyes).

How is this diagnosed?

This condition is usually diagnosed by an eye specialist (ophthalmologist). Tests will be done to help confirm the diagnosis. These may include:

• Checking the retina with a device for viewing inside the eye (ophthalmoscope).
• Measuring the electrical response of the retina to flashing lights (electroretinogram, or ERG).
• Taking images of the retina using light waves (optical coherence tomography, or OCT).
• Special dye testing may also be done to look at the blood vessels in the retina. These tests include fluorescein angiography and indocyanine green angiography.
• Doing additional tests to check for the abnormal gene mutation (genetic testing).

How is this treated?

There is no cure for this condition. Wearing glasses will not correct the vision loss. Treatment may help your child manage complications and prevent further vision loss. Treatment may include:

• Eye drops to reduce cyst formation and thickening of the retina.
• Surgery on the retina to prevent further loss of vision.
• Genetic counseling. This should be offered to all patients with juvenile retinoschisis and also to carriers and family members. While gene therapy is not currently available for this condition, it may be an option in the future.

Follow these instructions at home:

• Give over-the-counter and prescription medicines only as told by your child’s health care provider.
• Ask the health care provider if your child needs visual services at home or school.
• Talk with your child’s teacher about the possibility of making any changes in the classroom to help your child see activities better.
• Follow instructions from your child’s health care provider about any restrictions on your child’s activities. Your child may be asked to avoid contact sports.
• Keep all follow-up visits as told by your child’s health care provider. This is important.
  • Your child will need regular vision exams to make sure that he or she is not developing a retinal detachment or other eye problems.

Contact a health care provider if your child:

• Has any vision changes.

Get help right away if your child:

• Has a sudden loss of vision.
• Suddenly sees:
  • Flashing lights off to the side.
  • Floating dark specks when looking straight ahead.

Summary

• Juvenile retinoschisis is a genetic condition that causes vision loss.
• This condition is caused by a defect in a gene (mutation) that is usually passed from a mother to her child (inherited).
• Treatment for this condition may include using eye drops, having surgery on the retina, and doing genetic counseling.
• Keep all follow-up visits as told by your child’s health care provider. Your child will need regular vision exams to make sure that he or she is not developing a retinal detachment or other eye problems.