Diagnosis

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 jellylike material (vitreous) that fills the eye or with 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 on the gene to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.

Oct. 29, 2016
References
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  7. Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. 2011;78:45.
  8. Antunes RB, et al. Importance of early diagnosis of Stickler syndrome in newborns. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2012;65:1029.
  9. Flint PW, et al. Genetic sensorineural hearing loss. In: Cummings Otolaryngology. 6th ed. Philadelphia, Pa.: Saunders Elsevier; 2015. http://www.clinicalkey.com. Accessed June 27, 2016.
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