Stickler syndrome is a group of connective tissue disorders with variable phenotypic expression. The most common type of Stickler syndrome is autosomal dominant, has ocular and systemic findings, and is caused by a mutation in COL2A1, the gene that encodes for type II procollagen. Some mutations in the gene cause an ocular-only phenotype.
The diagnosis is made based on the clinical features as well as the results of genetic testing. Common ocular abnormalities include an optically empty vitreous due to vitreous liquefaction, high myopia, lattice degeneration, and proliferative vitreoretinopathy. In addition, there is a high incidence of retinal detachment secondary to retinal breaks. Anterior chamber angle anomalies, ectopia lentis, cataracts, ptosis, and strabismus are less common.
Characteristic systemic abnormalities are a flat midface, progressive hearing loss, cleft palate, Pierre Robin sequence, mitral valve prolapse, and progressive arthropathy with spondyloepiphyseal dysplasia. Although the arthropathy may not be symptomatic initially, children with Stickler syndrome often show radiographic abnormalities of the long bones and joints, and associated symptoms develop.
The retinal detachments are often difficult to repair because these patients may have large retinal breaks posteriorly and the incidence of proliferative vitreoretinopathy is high. The incidence of vitreous loss during cataract surgery is high, as is the rate of subsequent retinal detachment. Retinal folds and breaks should be treated before cataract extraction. Prophylactic retinopexy may be appropriate in certain patients.
Fincham GS, Pasea L, Carroll C, et al. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology. 2014;121(8):1588–1597.