Stickler Syndrome

Stickler syndrome is a progressive genetic condition of the connective tissues throughout your body. It has a tendency to affect the joints and eyes. 

What causes Stickler Syndrome?

Stickler Syndrome is usually caused by a mutation in the Type II pro-collagen (COL2A1) gene, although several other genes mutations have also been identified. These mutations cause abnormalities in the formation of connective tissues (collagen) throughout the body including those associated with Stickler Syndrome.

How is Stickler Syndrome inherited?

Stickler syndrome is an inherited condition meaning it is passed from parents to their children through genes. There are 4 genes known to be associated with Stickler syndrome. Researchers are looking for additional genes that may cause the condition.

What are the features of Stickler Syndrome?

Stickler syndrome can affect any part of the body where there may be abnormal collagen. The syndrome is associated with vision problems (severe nearsightedness and retinal detachments), hearing issues (hearing loss and frequent ear infections), facial abnormalities (small noses, smaller chins and cleft palate), musculoskeletal abnormalities (arthritis, loose joints, neck and back problems, short stature), as well as other problems caused by abnormal collagen.

How does Stickler Syndrome affect the eye?

Stickler syndrome can affect different parts of the eye. It can cause a refractive error (problem with the curvature of the eye) such as a high degree of nearsightedness (myopia) or astigmatism. It can also affect the vitreous or gel part of the eye. About half of patients who have Stickler syndrome are also at risk of having a detached retina.

How is Stickler syndrome treated?

Early evaluation and regular, long-term follow-up visits to an ophthalmologist are essential. Glasses and/or contact lenses are utilized for myopia (near-sightedness). Laser or cryotherapy used in areas of the retina to reduce the risk of detachment. Additional retina surgery may be necessary to repair retinal detachments if they occur.