![]() ![]() Other findings include axial myopia (present in 80%) resulting from megalophthalmos, open-angle glaucoma resulting from anterior segment dysgenesis, and cataract. These vitreoretinal abnormalities may lead to a giant retinal tear and rhegmatogenous retinal detachment in up to 50% of patients. The most common ocular findings in Stickler syndrome are vitreous syneresis in a membranous or beaded configuration and radial perivascular retinal lattice degeneration, both of which are present in up to 100% of affected patients. Radial perivascular retinal degeneration in Stickler syndrome Pertinent history may be elicited by inquiring specifically about associated symptoms of hearing loss and joint pain. Ophthalmic manifestations, if not detected early, may not present until a retinal detachment develops classically, this occurs in young adulthood, but may occur at any age. Stickler syndrome classically presents in the pediatric population due to the characteristic facies associated with Pierre-Robin sequence. Recent studies have suggested that prophylactic peripheral retinal cryotherapy or laser may be effective in reducing the risk of rhegmatogenous retinal detachment, the most common cause of acute visual loss in affected patients (see Surgery section below). Genetic counseling may be beneficial for affected patients of childbearing age. Membranous vitreous, congenital megalophthalmos no systemic findingsīecause Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. No ocular involvement, otherwise similar to type 1 Membranous vitreous, congenital megalophthalmos, arthropathy, deafness, Pierre Robin sequenceįibrillar or Beaded vitreous, otherwise similar to type 1 The condition has been divided into subgroups based on ocular and systemic clinical findings, with each subgroup also corresponding to a specific genetic defect. Normal collagen fibrils are composed of three identical (homotrimer) or differing (heterotrimer) polypeptide chains genetic mutations affecting the ability of consitiuent polypeptide chains to successfully form stable trimers therefore prevent the production of mature collagen and subsequently produce the clinical manifestations of Stickler syndrome. Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. If both parents are heterozygous for an autosomal recessive Stickler syndrome, there is a 25% chance of having the disease, a 50% chance of being heterozygous and an asymptomatic carrier, and a 25% chance of being unaffected with no pathologic variant. The child of an affected parent with dominant inheritance has at least a 50% chance of inheriting the pathologic variant. The only known risk factor for Stickler syndrome is a family history of the condition. There are many cases with recessive inheritance as well. The majority of cases that present to an ophthalmology outpatient department will be either Type 1 or Type 2 Stickler syndrome. Type 5 has only ocular involvement (COL2A1). Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion, though a significant number of cases may be sporadic. Stickler syndrome a genetically inherited abnormality in collagen production that produces a number of pathologic maxillofacial, ocular, auditory and joint manifestations. ![]()
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