Stickler syndrome is a genetic disorder that causes joint, hearing, and vision problems. It affects collagen, the connective tissue of the body. Collagen is a main component of the eye’s cornea and sclera.
Who Is at Risk for Stickler Syndrome?
Some people inherit Stickler syndrome from a parent. A parent with Stickler syndrome has a 50 percent chance of passing the disorder along to a child. However, other people have no family members who have Stickler syndrome. In those cases, a new change in their genes caused the syndrome.
What Are Symptoms of Stickler Syndrome?
Children with Stickler syndrome can develop many eye problems at an early age.
Children with Stickler syndrome are often born with severe nearsightedness. They can only see objects very close to them.
Some children are born with cataracts, a clouding of the eye’s lens.
Children with Stickler syndrome can also get glaucoma. Glaucoma is a disease that damages the optic nerve.
Detached retinas can also threaten the sight of children with Stickler syndrome. They should see their ophthalmologist immediately if they notice a sudden onset of:
An ophthalmologist diagnoses Stickler syndrome with a physical examination and medical history. A complete eye exam detects the problems associated with the syndrome.
Sometimes, the clear gel that fills the eyeball has an abnormal appearance. This gel is the eye’s vitreous. The abnormal appearance is visible during an eye exam.
Stickler syndrome cannot be cured, but ophthalmologists can treat eye problems due to the syndrome.
Treatment for cataracts in infants varies depending on each patient’s condition. Surgery is usually recommended very early in life. Many factors affect this decision, including the infant’s health and whether there is a cataract in one or both eyes.
If the child has a cataract in both eyes, it is possible that surgery may be delayed for years. Depending on their severity, it may never become necessary. But if only one eye has a cataract, the infant’s visual system can develop abnormally. If left untreated, serious vision problems and even vision loss can result.
Retinal Detachment Treatment
People with Stickler syndrome have increased risk for detached retina. They should be aware of detached retina symptoms in case they get one. If a detached retina occurs, surgery is necessary to reattach the retina.
Glaucoma due to Stickler syndrome is commonly treated with medicated eyedrops. Surgery may be needed in some cases.
For severe nearsightedness, vision can often be corrected with glasses or contact lenses. Sometimes refractive surgery can help these cases of high myopia as well.