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X-Linked Retinoschisis

X-linked retinoschisis (also known as X-linked juvenile retinoschisis) is an inherited eye disorder that occurs almost exclusively in males. Although it begins at birth, the condition is usually not diagnosed until a child’s early school years when they may have difficulty seeing the blackboard. X-linked retinoschisis is caused by a splitting of the retina (the light-sensitive tissue at the back of the eye), which affects the eye's macula. The macula is part of the retina that is responsible for color perception and central vision, which is needed for detailed tasks such as reading, writing, driving and seeing other fine details clearly. In some cases, peripheral (side) vision is also affected.

Some people with X-linked retinoschisis retain useful vision well into adulthood, while others experience a rapid decline during childhood. In rare cases, the condition can cause serious complications, such as retinal detachment and vitreous hemorrhage, resulting in severely impaired vision or blindness.

A decline in central vision is the hallmark symptom of X-linked retinoschisis. Other symptoms include night blindness, an inability of both eyes to focus on an object (strabismus) and roving, involuntary eye movements (nystagmus). In about half of the cases, peripheral (side) vision is also affected.

To confirm a diagnosis of X-linked retinoschisis, a test called an electroretinogram is performed, which assesses the function of the retina. A special photograph of the eye called an optical coherence tomogram (OCT) can show the retinal splitting and study the retinal thickness. A visual field test will be performed to evaluate your side vision. In addition, your ophthalmologist may discuss the testing your blood to screen for mutations in the gene that causes X-linked retinoschisis.

At this time, there are no cures available for X-linked retinoschisis. However, researchers have identified mutations in a gene on the X chromosome that cause juvenile retinoschisis. They are now studying the gene to determine its function in the retina, with the aim of developing effective treatments for X-linked retinoschisis. Currently, a drug called dorzolamide is available, which as been shown to improve retinal health and restore some vision in people with retinoschisis. Rarely, some patients may develop bleeding in the eye or retinal detachment that may require surgery.

Patients may also benefit from low-vision aids, including electronic, computer-based and optical aids. Orientation and mobility training, adaptive training skills, job placement and income assistance are available through community resources.

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Reviewed by health care specialists at UCSF Medical Center.

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