Stickler syndrome (arthro-ophthalmopathy)

Record ID 32013000572
Authors' recommendations: Stickler syndrome is a multisystem genetic disorder that is both phenotypically and genetically heterogeneous. Stickler syndrome is characterized by manifestations in the eyes, hearing ability, facial features, and skeletal system. Stickler syndrome causes abnormalities in the vitreous formation of the eye—the clear gelatinous material that fills the space between the lens and the retina—and this finding is considered specifically characteristic of Stickler syndrome. Due to the abnormalities of vitreous formation, most patients with Stickler syndrome have severe myopia (nearsightedness) that is detectable in the newborn period and typically does not progress with age. In addition, Stickler syndrome is the most common form of inherited cause of retinal detachment in childhood. Hearing impairment occurs in approximately 40% of cases and is usually mild, but can be progressive. The facial features characteristic of Stickler syndrome include a flat facial profile caused by underdevelopment of the bones in the face, a small upturned nose, and micrognathia (small jaw). Stickler syndrome is a disease of collagens, the main proteins found in human connective tissue. Sequence variants in 5 genes that encode different collagen proteins have been described in association with Stickler syndrome, including collagen type 2A1 (COL2A1), collagen type 11A1 (COL11A1), collagen type 11A2 (COL11A2), collagen type 9A1 (COL9A1), and collagen type 9A2 (COL9A2). Sequence variants in COL2A1, COL11A1, and COL11A2 are inherited in an autosomal dominant manner (i.e., a variant in a single copy of the gene is sufficient to cause disease), while sequence variants in COL9A1 and COL9A2 are inherited in an autosomal recessive manner (i.e., variants in both copies of the gene are required to cause disease). There is no cure for Stickler syndrome; treatment involves management of symptoms and prevention of secondary complications.
Project Status: Completed
Year Published: 2013
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Retinal Detachment
  • Connective Tissue Diseases
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
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Copyright: 2013 Winifred S. Hayes, Inc
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