This disorder involving the eye and the skeletal system was first described in 1965 by Gunnar B. Stickler, a German-American pediatrician. It is only one of several disorders involving abnormalities of collagen, an important component of connective tissue found throughout the body.
At least two forms of Stickler syndrome are now known, types I and II, based on the clinical features and the existence of two distinctly different gene mutations. Because of the progressive eye changes that can be vision threatening in both types, these are some of the most serious health aspects of Stickler syndrome. Extreme nearsightedness combined with retinal degeneration and abnormalities of the vitreous (the jelly-like material that fills the back of the eye), can lead to tears in the retina and detachment from the coating of the eye. Blindness results if this is not repaired. There is also some progressive deterioration of the retina which causes difficulties with night seeing and peripheral vision. Cataracts and glaucoma may occur.
Other features include cleft palate, premature arthritis, shallow eye sockets, a short lower jaw, and some hearing impairment (type I). The hearing deficit in type II tends to be more severe and hearing aids are more commonly needed. The fingers may appear long and narrow and the vertebrae are sometimes misaligned leading to scoliosis.
Both types I and II are autosomal dominant disorders which means that only a single mutation, usually inherited from an affected parent, is needed for the disorder to be passed from one generation to the next.
Stickler syndrome is a complex disorder with ocular and skeletal abnormalities. It usually requires a team approach to the diagnosis, including ophthalmologists, pediatricians, and orthopedists. Because of the high risk of retinal detachments that require immediate surgery to preserve vision, patients must have regular eye examinations throughout their lives. Arthritis can also be treated by specialists and cleft palates can be surgically repaired. The prognosis for a normal lifespan is good.