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Stickler Syndrome

  • Stickler syndrome

    There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problemsA metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. Children with a cleft palate are also prone to ear infections and occasionally swallowing difficulties.

  • Stickler syndrome

     A total of 10,090 patients (mean age 57.2 ± 16.7 years, range 0-94, median 58.4) were evaluated. A total of 39.3% had ocular trauma, 34.9% inflammatory ocular surface disorder, 5.7% floaters, 3.3% visual symptoms of neurologic origin, 1.6% uveitis, 1.5% ocular hypertension, 0.8% retinal tear or detachment, 0.7% retinal vascular disease, and 0.5% other causes. A total of 1.6% of the patients were hospitalized. Major research is going on arthro-ophthalmopathy and genetic disorder research centers

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