Stickler syndrome is a progressive genetic disorder of connective tissue throughout out the body. The condition was first described by Dr. Gunnar B. Stickler in 1965 and was originally called "Hereditary Progressive Arthro-ophthalmopathy" because of its tendency to affect the joints and the eyes.
Stickler Syndrome is associated with problems of vision (severe nearsightedness and retinal detachments), hearing (hearing loss and frequent ear infections), craniofacial abnormalities (small noses and chins, cleft palates) musculoskeletal abnormalities (arthritis and loose joints) as well as other problems caused by abnormal collagen [See figure 1]. A particular group of physical features, called Robin sequence, is also common in people with Stickler Syndrome. Robin sequence includes cleft palate, a large tongue (macroglossia), and a small lower jaw (micrognathia).
Stickler Syndrome is usually caused by a mutation in the Type II pro-collagen (COL2A1) gene, although several other COL genes mutations have also been identified. These mutations cause abnormalities in the formation of connective tissues (collagen) throughout the body and give rise to the various features of Stickler Syndrome.
Stickler syndrome is usually inherited in an autosomal dominant pattern (an affected person inherits a gene mutation from one affected parent). Less commonly, Stickler syndrome can occur sporadically, which means that there is no family history of the disease, and that the individual is the first one in the family to have the mutation. Genetic counseling is recommended, and children of affected parents should be evaluated by an eye doctor (ophthalmologist) in early childhood.
Extreme myopia (nearsightedness) is one of the earliest and most characteristic signs of Stickler Syndrome. The associated thin peripheral retina can lead to retinal breaks, holes, and retinal detachment and scarring which can permanently reduce vision. Cataracts (clouding of the lens in the eye) can reduce vision, and typically occur at a younger age in individuals with Stickler Syndrome.
A point system is used to diagnose Stickler syndrome based on the number of oral-facial, ocular, auditory and skeletal abnormalities detected. In addition, points are given for family history or the presence of a mutation in one of the genes known to be associated with Stickler Syndrome. There are 12 points possible on 9 criteria. Diagnosis requires 5 points minimum and presence of cleft palate, ocular abnormalities or high frequency hearing loss.
Early, regular, long term evaluation is essential. Glasses and/or contact lenses are utilized for myopia. Laser may be applied to areas of thin retina to reduce the risk of detachment. Additional retina surgery may be necessary to repair detachment. Significant cataract may require lens removal.
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Revised November, 2012
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