Contributor: Gordon K. Klintworth
Arthroophthalmopathy (Stickler syndrome) is an autosomal dominant inherited disorder characterized by specific ocular and skeletal abnormalities. Two genetically distinct types are recognized: Stickler syndrome type I that is caused by mutations in the collagen type II (COL2A1) gene on human chromosome 12(12q13.1-q13.3). Stickler syndrome type II is caused by mutations in the collagen type XI (COL11A1) gene on human chromosome 6 (6p21.3). The ocular features include congenital progressive high myopia. The vitreous is optically empty except for a few fibrous strands or has premature gel syneresis and degeneration and vitreoretinal separation. Sudden retinal detachments can occur in the first decade. Focal traction on retina leads to retinal hole formation or giant retinal tears and rhematogenous retinal detachment. Distinctive wedge-and-flock cataracts occur in as many as 43% of patients. Systemic manifestations include deafness, cleft palate and micrognathia.
The ocular features include congenital myopia that is progressive. The vitreous is empty except for a few fibrous strands. Sudden retinal detachmennts can occur in the first decade. Distinctive wedge-and-flock cataracts occu in as many as 43% of patients with Stickler syndrome. In Stickler syndrome, the vitreous is empty except for a few fibrous strands.