Stickler syndrome (hereditary progressive arthroophthalmopathy)

General: Autosomal dominant; onset in childhood; severe and debilitating connective tissue disorder inherited as an autosomal domi 222g62c nant syndrome with a variable phenotype; linkage analysis has provided statistical evidence for linkage of collagen type II (COL2A1) gene with this syndrome in some but not all families.

Ocular: Phthisis bulbi; glaucoma; chronic uveitis; keratopathy; complicated cataracts; chorioretinal degeneration; total retinal detachment during first decade of life; myopia; giant retinal tears.

Clinical: Bony enlargement of joints with abnormal development of the articular surfaces and premature degenerative changes; hypermobility of joints with abnormality in connective tissues supporting the joints; possible skeletal deformities.

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Hall J. Stickler's syndrome presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. Birth Defects 1974; 10: 157-l71.

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Vu CD, Brown J, Korkko J, et al. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in COL2A1 gene. Ophthalmology 2003; 110: 70-77.

Zlotogora J, et al. Variability of Stickler syndrome. Am J Med Genet 1992; 42:337-339?