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Tests and diagnosis
By Mayo Clinic staffWhile Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests may be needed to determine the severity of the symptoms and help direct treatment decisions.
Imaging tests
X-rays can check for abnormalities or damage in the joints and spine.
Eye exams
Eye exams can help detect:
- Extreme nearsightedness
- Glaucoma, an increase in pressure within the eye
- Cataracts, a clouding of the eye's lens
- Defects in the vitreous, the jelly-like material that fills your eye
- Problems with the eye's lining (retina), which is crucial for sight
Hearing tests
Your doctor may use a test called an audiogram — which measures your ability to detect different pitches and volumes of sound — to determine whether your child has experienced hearing loss.
Genetic tests
Molecular genetic testing may be used to identify the mutant genes associated with Stickler syndrome, but it's not commonly used to diagnose this disorder. However, it's occasionally used to confirm a suspected diagnosis or for prenatal diagnosis.
- Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. In press. Accessed Sept. 9, 2010.
- Stickler syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nih.gov/condition/stickler-syndrome. Accessed Sept. 9, 2010.
- Stickler GB, et al. Clinical features of hereditary progressive Arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine. 2001;3:192.
- Stickler syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stickler%20Syndrome. Accessed Sept. 10, 2010.
- Rose PS, et al. Stickler syndrome: Clinical characteristics and diagnostic criteria. American Journal of Medical Genetics. 2005;138A:199.
- Lansford, M. Focus on the physical assessment of the infant with Stickler syndrome. Advances in Neonatal Care. 2008;8:308.
- Robin NH, et al. GeneReviews: Stickler syndrome. National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler. Accessed Sept. 14, 2010.
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