What is Stickler Syndrome?
Stickler Syndrome is genetic condition that affects proteins involved in the production of collagen. The three most common collagen genes known to cause Stickler Syndrome are COL2A1, COL11A1 and COL11A2, and the clinical condition differs depending on the gene involved.
Due to the large size of the Stickler genes and the different way in which each gene can be affected, the clinical signs can vary considerably between patients and families and even between affected individuals within the same family.
Clinical features include:
- Cleft Palate
- Hearing problems
- High myopia (short-sightedness)
- Retinal detachment
How is Stickler Syndrome treated?
- Cleft palates, if necessary, are surgically repaired at an early age.
- Hearing problems in association with cleft palate require close monitoring and sometimes insertion of grommets. Any additional associated sensorineural hearing loss as a result of Stickler syndrome is usually mild in most patients, but occasionally might be severe enough to require hearing aids.
- Regular eye examinations are required by an experienced vitreoretinal specialist to ensure there are no retinal holes, breaks or detachments which require treatment. It is also important to monitor the development of the vision to ensure that there is binocular vision and regular refraction for glasses.
- Hypermobility is often more pronounced in childhood. Assessment and advice from a rheumatologist is valuable in order to allow the child to lead a normal active childhood. Exercises may be given to strengthen the soft tissues supporting the joints in order to minimise the effects of hypermobility.
- Arthropathy is treated as or when (or even, if) it develops. It is sensible to minimise weight gain and to remain supple with exercise and good diet.
- Congenital cataracts may not affect the vision as they are often ‘off centre’ and can be left alone. Premature cataracts that diminish the visual acuity can be treated surgically.
- Retinal detachments can be repaired and sight restored but it is an emergency situation and should not be left. Patients with Type 1 Stickler Syndrome at risk of a Giant Retinal Tear are offered prophylactic (preventative) surgery to reduce their risk.