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 numerous disorders involving abnormalities of collagen, an important component of connective tissue found throughout the body.
At least four types of Stickler syndrome are now known, based on the clinical features and the existence of four mutations different genes. Because of the progressive eye changes that can be vision threatening, 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 these are not repaired. There may also be some progressive deterioration of the retina which causes difficulties with night seeing and peripheral vision.
Other features include a flattening of the midface, a short lower jaw, and some hearing impairment. The hearing deficit in type IV is sensorineural in origin and tends to be severe requiring assistive hearing devices. Short stature is common.
Type IV is inherited in an autosomal recessive pattern in contrast to other types. Parents do not transmit this disorder to their children directly. Instead, they carry a single copy of the causative mutation and if their child receives it from each of them, the double dose of the mutation leads to this disorder.
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. The prognosis for a normal lifespan is good.