Written by
Dr. Hart Moss
Stickler syndrome is a genetic condition that weakens the connective tissue—specifically collagen—throughout the body. In addition to hearing loss, joint problems, and sometimes facial deformities, Stickler syndrome may cause eye problems, including nearsightedness, cataracts, and glaucoma.
This is because it affects the vitreous humor (the gel-like substance that fills the eyeball), as well as other connective tissue in and around the eye.
This syndrome was first studied and described in 1965 by Dr. Gunnar B. Stickler, who referred to it as “Hereditary Progressive arthro-ophthalmopathy.”
The term Stickler syndrome actually refers to a group of four distinct genetic disorders. All four varieties of Stickler syndrome affect vision, and one type affects only the eyes.
Ocular Symptoms of Stickler Syndrome
Although in some cases babies who have Stickler syndrome may be born with cleft palates, generally the first noticeable symptom is myopia (nearsightedness). With myopia, the eye is generally much longer than an “average” eye, which causes light to be focused in front of the retina instead of directly on it. The ability to focus on distant objects is then impaired, although near vision may be intact.
The myopia caused by this syndrome can range in severity from one patient to the next.
In addition to the various vision problems associated with Stickler syndrome, affected individuals may also suffer from a variety of systemic ailments:
- Hearing loss of varying severity, usually affecting the ability to detect high-frequency sounds
- Skeletal and joint abnormalities, which may first present themselves as unusual flexibility
- Spine curvature
- Osteoarthritis, which sometimes begins while the affected child is still an adolescent
- Facial deformities—adults with Stickler syndrome may develop a particular appearance characteristic of the disease: cleft palate, tongue that seems too large for the mouth, and flattened facial features
- Chronic ear infections
- Chronic dental and orthodontic problems
- Heart problems
What Causes Stickler Syndrome?
Stickler syndrome is uncommon, affecting approximately one out of every 7,500 people in Europe and the United States. The cause is genetic; a parent with this syndrome has a 50 percent chance of passing the condition to their offspring with every pregnancy.
In rare cases, it can occur as a result of genetic mutation, even if neither parent has the disease.
The Ocular Complications of Stickler Syndrome
As noted above, it can cause the vitreous to deteriorate, which in turn can cause the degenerated vitreous to pull on the retina, leading to symptoms such as eye flashes or floaters.
In some cases, this may lead to a retinal tear, or to a serious, vision-threatening condition known as detached retina.
In fact, Stickler syndrome is the leading cause of retinal detachment in children, and retinal tears or detachments occur in up to 50 percent of sufferers.
Myopia, whether caused by this syndrome or not, is often a risk factor for retinal detachment. This is because the shape of a myopic eyeball puts more pressure on the retina via the vitreous humor. Retinal tearing or detachment can also cause scarring, which can interfere with vision.
Other eye problems that may occur in association with Stickler syndrome include:
- Nystagmus (involuntary eye movements)
- Cataracts
- Glaucoma or elevated eye pressure
- Astigmatism
Individuals who suffer from Stickler syndrome are not only more prone to cataracts, but also tend to develop them at a younger age than people who were not born with this condition.
How is Stickler Syndrome Diagnosed?
Initially, this syndrome is diagnosed clinically—that is, a certain range of symptoms must be present—rather than with a genetic test, although such a test may be administered later in order to confirm the diagnosis.
As noted above, the first of these symptoms to appear is generally myopia, which may become evident while the affected child is still an infant.
But the time of onset varies from one individual to the next, and symptoms of it may not begin to appear until adolescence, or in some cases even adulthood.
If myopia or other ophthalmic symptoms are not detected early in the child’s life, this syndrome may go undiagnosed until a retinal detachment occurs.
How is Stickler Syndrome Treated?
There is no cure for Stickler syndrome, so treatment can focus only on the symptoms. For the nearsightedness, this usually means glasses or contact lenses.
Laser surgery may be employed to areas where the retina has been compromised in order to reduce the risk of retinal detachment.
If retinal detachment does occur, further surgery may be necessary to repair the detachment. Surgery may also be required to address cataracts or other associated conditions.
How Can I Prevent Stickler Syndrome?
Because it is a genetic condition, it cannot be prevented.
What Is my Prognosis for Stickler Syndrome?
While this condition cannot (yet) be cured or prevented, people who suffer from it can still live healthy, productive lives. Most of the maladies caused by this syndrome (even the facial deformities) can be addressed with surgery, medication, or other corrective measures.