Stickler syndrome is a rare disease of the connective tissues that mostly affects areas around the eyes, ears, face, and mouth. Retinal detachment is a common complication of this disease, and it’s one of the main causes of retinal blindness in children.
This article will take a look at different versions of this condition, how it’s diagnosed, and what treatments are available.
Stickler syndrome is often an inherited disease that originates from a mutation in collagen genes. These genes help guide the production of collagen proteins that give your body its structure and support.
While there are some cases of this disorder happening spontaneously with random gene mutations, it’s most often passed through families.
There are several subtypes of Stickler syndrome, and the specific symptoms vary greatly by type and from one person to the next.
- Stickler syndrome type 1: This type of Stickler syndrome is caused by a mutation in the COL2A1 gene, and usually features a sparse or completely empty vitreous humor (part of the eye).
- Stickler syndrome type 2: This form of the disease is caused by a mutation in the COL11A1 gene and features vitreous humor with a beaded texture.
- Stickler syndrome type 3: This form of Stickler syndrome is caused by a mutation in the COL11A2 gene on chromosome 6p21.3, and it’s known as the nonocular type that mostly affects the joints and hearing.
- Stickler syndrome types 4 and 5: These versions of the disorder have very specific gene mutations, but have only been found in a handful of intermarried families.
One of the most recognizable features in people with Stickler syndrome is a flattened appearance in the face from underdeveloped bones in the center of the face, cheekbones, and bridge of the nose. Other noticeable features in people with this condition include:
The presence of all of these features together is usually referred to as the Pierre Robin sequence, and it can lead to problems with breathing and eating.
As far as symptoms go, however, vision problems are the primary issue for people with this condition. Nearsightedness and an abnormal appearance or texture in the clear, gel-like center of the eye are common.
Other symptoms can include:
The diagnosis process for Stickler syndrome ideally begins in the prenatal or newborn period. Early diagnosis is key to preventing or avoiding severe complications such as blindness, but there’s no official testing or criteria for making a diagnosis of Stickler syndrome. Instead, diagnosis is made on the observation of clinical features.
In some cases, parents may know their child will be impacted by Stickler syndrome before birth, especially if the mutation that causes this condition has already been identified in the families of one or both parents. Even when this genetic mutation hasn’t been diagnosed, a doctor may decide to screen for this mutation if you or your partner share certain trends in your family history, such as early onset myopia, cataracts, or arthritis. While a thorough history or an examination can uncover this condition, it may also be diagnosed with molecular genetic testing.
Is Stickler syndrome considered a disability?
A disability is generally considered to be any mental or physical condition that impairs or limits your daily activities. While Stickler syndrome isn’t technically a disability, some of its symptoms may be.
Whether or not you qualify as disabled with Stickler syndrome depends on your specific symptoms and to what degree these symptoms affect your life. For example, full blindness is usually considered a disability, but lesser vision impairments may not be.
Overall, the primary treatment for Stickler syndrome focuses on the management of symptoms. Early diagnosis is helpful because it allows specialists to begin observing and tracking progress early, with the ability to offer quick treatment in the event of retinal detachment and other serious complications.
Surgeries may be required to fix various skeletal malformations or abnormalities. In some cases, abnormal structures may require procedures such as a tracheostomy in order to avoid other complications. Other possibilities include things such as:
You can also check www.clinicaltrials.gov for ongoing clinical trials of Stickler syndrome treatments, but make sure to always discuss changes to your treatment with your primary doctor first.
The outlook for people with Stickler syndrome depends on the degree of impairment. It’s a fairly common connective tissue disease in the United States, but it’s also likely underdiagnosed. About 1 in 7,500 people in the United States have Stickler syndrome, but how much each person is affected by the disorder varies.
Generally, symptoms may be minor, but that can quickly change. The best course of action to prevent serious complications involves:
Blindness is one of the most severe and disabling complications associated with Stickler syndrome.
Living with Stickler syndrome
While Stickler syndrome is often underdiagnosed, there are lots of organizations that can help those impacted by the disorder. These include:
Stickler syndrome is a condition that develops from a genetic mutation and affects your connective tissue. Some people have very minor symptoms, such as changes in facial shape or characteristics. Others have more extreme symptoms such as blindness or deafness.
If there’s a history of these issues in your family, genetic testing may be able to aid a diagnosis. Early diagnosis of this condition and close surveillance of symptoms is key to avoiding serious complications like retinal detachment.