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X-linked juvenile retinoschisis

It is estimated that one in every 5000 to one in every 25000 males have X-linked juvenile retinoschisis. While this condition cannot be cured, there are options that can improve visual function.

X-linked juvenile retinoschisis in Hixson

What is X-linked juvenile retinoschisis?

X-linked juvenile retinoschisis or x-linked retinoschisis is a genetic condition which affects boys and men. The condition is characterized by abnormal splitting of the retinal layers and is the leading cause of juvenile macular degeneration in males.

The condition usually begins in the first decade of life, and the initial visual acuity ranges from 20/60 to 20/120. In the first and second decades, visual acuity usually declines, but remains stable until the fifth or sixth decade. Patients may become legally blind by the sixth or seventh decade, i.e. their visual acuity falls below 20/200.

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What can a low vision optometrist do to help you?

Having this condition makes everyday tasks, like reading, driving, grocery shopping, cooking, walking and recognizing others, difficult. If you or your loved one is suffering from this condition, our low vision optometrist will perform a low vision evaluation to determine the extent of your remaining vision. Our goal is to maximize your visual independence and enhance the quality of your life by recommending low vision aids based on the results of the eye exam. For instance, children can benefit from large-text books and high-contrast reading materials, while adults can utilize different types of magnifiers, tints, and adaptive softwares to assist them both at home and work.
Furthermore, low vision optometrists can make recommendations for different types of lighting, placement of lights, improving contrast, and reducing glare to make your life better.

Driving with juvenile retinoschisis

Low vision optometrists can help adults make the most of their vision. In most states, drivers with the condition can obtain restricted licenses if they wear bioptic telescopic lenses behind the wheel. A bioptic telescope consists of a pair of glasses with a telescope attached above your normal line of sight. These can be attached to your regular eyeglasses and can be used either for one or both of your eyes. Bioptic lenses magnify images just like binoculars and help you see things better. Using these lenses allows you to see things that are much further away, which is one of their main benefits.

See our page on the driving laws in Tennessee with low vision.

Causes

Mutations in the RS1 gene on the X chromosome cause X-linked juvenile retinoschisis. This gene produces a protein called retinoschisin. Proteins like this are essential for the development and maintenance of the retina. A lack of normal retinoschisin protein results in splitting of the retina layers, from which the term "schisis" is derived, disruption of inter-cell communication, and loss of vision.

Causes
Diagnosis

Diagnosis

X-linked juvenile retinoschisis is diagnosed through eye examinations using a variety of testing methods. In the majority of cases, people with this condition have reduced vision and schisis visible on examination and imaging, along with abnormal electroretinograms (a test which assesses the retina's function). Some individuals also have a family history of X-linked inheritance. Genetic testing is also available for it. This helps determine an accurate diagnosis as well as the likelihood of a child inheriting the disorder from their parents. The patient is more likely to understand which emerging treatments and clinical trials are most appropriate if they have an accurate diagnosis.

Diagnosis

Symptoms

Loss of visual acuity is one of the first signs of x-linked juvenile retinoschisis. Visual prognosis is generally good for uncomplicated cases, and a person may not lose much vision over their lifetime. Some patients may become legally blind.

It is also characterized by cystic macular lesions (like blisters) in the retina. The lesions can cause retinal thickness, which further aggravates vision loss.

Moreover, the disease can progress to vitreous hemorrhage, retinal detachment, and neovascular glaucoma, which might cause severe vision loss.

Treatment and management

While there is no cure for this disease, there are ways to slow the loss of vision and help you perform daily tasks and engage in social activities.

Clinical trials and experimental procedures

There are multiple clinical trials underway that are exploring options to treat juvenile retinoschisis. Many are utilizing cutting edge methods of gene therapy. For example, a National Eye Institute funded study explored the use of gene therapy by introducing a healthy RS1 gene into the cells of the eye to see if this improves the production of healthy retinoschisin in the eyes. The trial explored placing the gene in a non-disease-causing virus. 

Management through low vision eye exams

Long-term monitoring is required for patients with X-linked juvenile retinoschisis. The disease often progresses rapidly in childhood, so a child should be monitored frequently. In the teenage years to middle age, the disease usually stabilizes, at which point annual dilated fundoscopy exams are adequate. Those who are older are at higher risk for progression, vitreous hemorrhage, and retinal detachment. These patients should be closely monitored and/or treated. Annual exams with your low vision optometrist will ensure that you are maximizing your remaining vision and up to date on the latest developments that can improve your vision and life. 

Avoid sports

In patients with X-linked juvenile retinoschisis, it is suggested to avoid contact sports and other activities that can cause a hard blow to the head. By doing this, you minimize the risk of retinal detachment or eye bleeding.

Surgery

Surgery is rarely effective in treating X-linked juvenile retinoschisis because the disease only affects the inner layers of the retina. The surgery, however, may be of help to patients with complete retinal detachment.

Causes

Common Questions

Juvenile retinoschisis, RS1, X-linked juvenile retinoschisis, X-linked juvenile retinoschisis 1, X-linked retinoschisis, and XLRS1.
X-linked juvenile retinoschisis
Dr. McBryar cartoon

Summary

X-linked juvenile retinoschisis is a genetic condition that affects males. Having this condition makes everyday tasks, like reading, driving, grocery shopping, cooking, walking and recognizing others, difficult. Our goal is to maximize your visual independence and enhance the quality of your life by recommending low vision aids based on the results of the low vision eye exam. Patients visit our low vision clinic from all over Tennessee, and we are proud to be a leading low vision provider in , Chattanooga, Cleveland, Middle Valley.  You can schedule a low vision evaluation with our low vision optometrist at (423) 710 3965 so that we can determine the best course of treatment for you.

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Testimonials


Vision therapy is well worth the response, time and effort. Our Son had a hard time focusing and writing neatly. After vision therapy Seth could complete a task in half the time if previously took. His abilities to focus improved greatly and so did his handwriting.

Also, he was better at listening. As a parent, we wanted learning to be fun for our Son, and vision therapy made this possible.


Amanda T.

Vision Therapy is well worth the expense, time and effort. Our son had a hard time focusing handwriting neatly. After vision therapy Seth could complete a task in half the time it previously took his abilities to focus and improved greatly and so did his handwriting.

Also, he was better at listening. As a parent you wanted learning to be fun for our son and vision therapy made this possible.


Alexa H.

Vision Therapy has given or son the tools he needs to be able to scan and read the written word more effectively and efficiently.

He love working with John and these working sessions give him the motivation to gladly work on his homework assignments.

It amazed us to see the difference in the tracking of his eyes and along a line of it's from the beginning to the end of the treatment.

Dr. McBryar , Kristen and John  are all marvelous and we would recommend them to anyone I only wish that we would have found them sooner!


Charlotte M.

Prior to coming to the institute for vision development my son complained of daily headaches. Therapy has eliminated his headaches completely. I love knowing my son is able to learn pain-free for the rest of his life because of the work that has been done over just a few weeks in this office. He he absolutely loved coming that didn't even feel like going to a doctor or therapy. We are grateful for the relief he was able to find by coming here.

Thank you!


Olivia C.

Seems much less frustrated with life

Reads non-stop and fast

Spelling abilities have been hugely improved

Seems much more confident

Thank You!!!


Kelly O.

When we first came to the practice, my son did not have huge issues, but lots of small ones- trouble with reading, sports (hitting the baseball consistently), coordination, etc- that were not easily detectable,but when put together presented issues. The staff here were all very professional and loving towards him. While I was concerned in the reading, my son was concerned with the athletic side. Seeing improvement night off the bat gave him confidence that i have nor seen in him and made him want to not only Come to therapy, but also made him want to work hard. He has surpassed his grade level and above in reading and hit his first home run this year! Thank you!!!


Alice M.
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