While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. These may include:
- Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
- Eye exams. These exams can help your doctor detect problems with the jelly-like material (vitreous) that fills the eye or the lining of the eye (retina), which is crucial for sight. Eye exams also can check for cataracts and glaucoma.
- Hearing tests. These tests measure the ability to detect different pitches and volumes of sound.
Genetic testing is available to assist in diagnosis in some cases. Genetic testing can also be used to help in family planning and to determine your risk of passing the gene on to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.
Jan. 28, 2014
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed May 29, 2013.
- Snead MP, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye. 2011;25:1389.
- Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. 2010;78:45.
- Buchanan EP, et al. Syndromes with craniofacial abnormalities. http://www.uptodate.com/home. Accessed May 29, 2013.
- Pagon RA, et al. GeneReviews. Seattle, Wash.: University of Washington, Seattle; 2011. http://www.ncbi.nlm.nih.gov/books/NBK1302. Accessed May 30, 2013.
- Acke FR, et al. Hearing impairment in Stickler syndrome: A systematic review. Orphanet Journal of Rare Diseases. 2012;7:84.
- Michels VV (expert opinion). Mayo Clinic, Rochester, Minn. July 24, 2013.
- Daroff RB, et al. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-1-4377-0434-1..C2009-0-40427-6--TOP&isbn=978-1-4377-0434-1&uniqId=364938937-2. Accessed May 29, 2013.
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