Tag Archives: genetic

HLA B-27 and the Eye

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globe anatomy
anatomy of the eye (click on image to enlarge)

What is HLA-B27?

HLA-B27 is the name of an inherited marker found on white blood cells. It is found to be present with blood testing in one to ten percent of the population (higher in Scandinavians and some Native American groups). HLA is an abbreviation for Human Leukocyte Antigen. HLA-B27 is important to identify as it may be associated with medical problems such as inflammation of the eye, arthritis, psoriasis, and bowel inflammation, which may require medical treatment. There is an estimated risk of one-in-four that a person with HLA-B27 will develop eye or joint inflammation. Low vitamin D levels may play a role in causing the inflammation.

How does it affect the eye?

People who inherit HLA-B27 may develop iritis at some time during their lives. Iritis (also called anterior uveitis) means inflammation of the iris (the colored part of the eye). This inflammation is an irritation without infection. The inflammation is due to the natural immune system in the body mistakenly attacking the eye (similar to the way the immune system attacks the joints in rheumatoid arthritis). Symptoms include deep aching eye pain, redness, tearing, and light sensitivity. Other conditions of the eye may cause similar symptoms, so it is important to see an eye doctor promptly to make the correct diagnosis. Symptoms may be mild or severe. Treatment with drops (steroid and non-steroid), shots, and/or pills is important to prevent complications such as decreased vision, glaucoma, cataract, scarring, deformity, and blindness.

In 15-20% of patients with ocular inflammation associated with HLA-B27, the posterior structures of the eye may be involved.  This inflammation is called intermediate uveitis.  Symptoms include floaters and blurred vision.  Although eye drops may be helpful, steroid injections and systemic medications may be needed.  It is important to know if there is joint inflammation when deciding how to treat eye inflammation, because Humira is preferred over other medications if immunosuppressive therapy is needed.  Humira (and other TNF-apha inhibitors) are effective for both eye and joint inflammation.  Whereas, methotrexate and mycophenolate are good for eye inflammation, but less effective against joint inflammation associated with HLA B27.

How can it affect other parts of the body?

HLA-B27 is associated with ankylosing spondylitis, reactive arthritis, inflammatory bowel disease, and psoriasis. Ankylosing spondylitis is an arthritis that involves the spine, and it usually causes back pain and stiffness. Reactive arthritis usually involves large joints like the knees, ankles, feet, and wrists. It may follow an episode of infection of the intestines, bladder, or genitals. Inflammatory bowel disease may involve the small intestine (Crohn’s disease) or the large intestine (ulcerative colitis). Psoriasis is a skin condition causing raised red areas of the skin with scaling. Rarely, patients with HLA-B27 will suffer from scarring of the lungs (apical pulmonary fibrosis) or inflammation of the large blood vessels (aortitis).

Who should I see for evaluation of HLA-B27?

If you test positive for HLA-B27, you should inform all of your doctors so they may be alert for associated medical problems. You may be referred to an ophthalmologist if you have eye symptoms. A rheumatologist may evaluate joint symptoms with examination and X-rays. A gastroenterologist evaluates stomach problems. Recognizing symptoms and reporting to the doctor in a timely fashion may prevent severe and permanent complications.

By Scott E. Pautler, MD

For a telemedicine consultation with Dr Pautler, please send email request to spautler@rvaf.com. We accept Medicare and most insurances in Florida. Please include contact information (including phone number) in the email. We are unable to provide consultation for those living outside the state of Florida with the exception of limited one-time consultations with residents of the following states: Alabama, Arkansas, Connecticut, Georgia, Minnesota, and Washington.

Copyright © 2017-2022 Designs Unlimited of Florida. All Rights Reserved.

Stargardt Disease

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Stargardt disease image
Color photo and auto fluorescent fundus image of Stargardt disease

What is Stargardt disease?

Stargardt disease is an inherited problem of the retina. The retina is a thin layer of delicate nerve tissue that lines the inside wall of the eye like the film in a camera. In the eye, light is focused onto the retina, which “takes the picture” and sends the image to the brain. Stargardt’s disease mainly affects the central part of the retina that normally provides sharp, central, reading vision and color vision.

What causes Stargardt disease?

Stargardt disease is usually inherited in a recessive pattern, which means it may skip many generations. An individual usually inherits the affected gene from both parents who carry the gene in order to have symptoms of the condition. Individuals who have inherited the gene from only one parent usually do not exhibit symptoms and are called “carriers”. If both parents carry the gene, then one in four children will have symptoms of Stargardt disease. If a person with Stargardt disease has children with someone who does not carry the gene, none of their children will have Stargardt disease, but half of their children will carry the gene. The gene variants that cause Stargardt disease are very common; they are present in about one in twenty people.

What are the symptoms of Stargardt disease?

Stargardt disease may cause no symptoms in the early stages. It may cause symptoms early or late in life. With time, symptoms may include the following:

  1. Photophobia—unusual sensitivity to light.
  2. Hemeralopia—difficulty seeing well in bright light.
  3. Decreased color vision.
  4. Blurring of central vision, sometimes with distortion or blind spots.

If Stargardt disease progresses over many years, it may cause a loss of vision to the point of legal blindness. In such cases, the loss of central vision interferes with the ability to read and drive, but the side-vision usually remains good. Sometimes it progresses very slowly and never causes significant visual loss. The rate of visual loss can be predicted by identifying others in the same family who also have Stargardt disease, as the pattern is often similar among family members. The visual symptoms may be monitored with the Amsler grid test.

How is Stargardt disease diagnosed?

The symptoms listed above may be the first clue to the diagnosis. A routine dilated eye examination can detect the retinal changes of Stargardt disease. In most cases a fluorescein angiogram is helpful. In this procedure the ophthalmologist injects a dye into the vein of the arm and photographs are taken of the retina, which show specific changes in the retina to make the diagnosis. A free genetic test can be ordered by my office and mailed to you.  It involves a painless swab of the lining of the mouth.  It is very reliable to detect the gene that causes Stargardt disease.

How is Stargardt disease treated?

There is no proven treatment for Stargardt disease, but studies are underway to find a treatment to slow the loss of vision. Researchers recommend avoiding excessive exposure to sunlight and avoid taking vitamin A supplements. It may also be helpful to avoid excessive dietary intake of foods that contain vitamin A, such as carrots and liver.

If significant loss of vision does occur, there are programs and devices that focus on helping a person find ways to cope with the visual impairment. Various low-vision optical devices such as magnifying devices, closed-circuit televisions, and large-print reading material can help to minimize the effects of visual impairment. Your ophthalmologist can prescribe optical devices or refer you to a low-vision specialist. Because side vision is less commonly affected, the remaining sight can be very useful.

A wide range of support services, rehabilitation programs, and devices are available to help people with cone dystrophy continue with many of their favorite activities. The Lighthouse for the Blind and the Pinellas Center for the Visually Impaired have classes and specialists in providing prescription lenses to magnify printed material. The Division of Blind Services provides rehabilitation services and financial aid for eye care in selected cases. Your doctor can give free access to the “talking book” library to make “books on tape” available. A form is available from your doctor that establishes legal blindness to be used for property tax and income tax deductions. As always, if you have any questions please do not hesitate to contact your doctor for more information.

By Scott E. Pautler, MD

For a telemedicine consultation with Dr Pautler, please send email request to spautler@rvaf.com. We accept Medicare and most insurances in Florida. Please include contact information (including phone number) in the email. We are unable to provide consultation for those living outside the state of Florida with the exception of limited one-time consultations with residents of the following states: Alabama, Arkansas, Connecticut, Georgia, Minnesota, and Washington.

Copyright © 2016-2022 Designs Unlimited of Florida. All Rights Reserved.