Tests and diagnosisBy Mayo Clinic staff
While 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.
X-rays can check for abnormalities or damage in the joints and spine.
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
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.
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.
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