Your child’s doctor checks for usher syndrome by asking questions about medical history and doing testing for hearing, balance and vision. The child’s eye doctor checks retinitis pigmentosa as a part of comprehensive dilated eye exam. The eye exam is simple and painless. The doctor may give eye drops to dilate the pupils and check the eyes for retinitis pigmentosa (RP) and other eye problems. The eye exam includes a visual field test to check peripheral vision.
The doctor may also do various other tests including,
- Electroretinography (ERG) - This ERG test lets the eye doctor check how well the retina responds to light.
- Optical Coherence Tomography (Oct) - This test uses light waves to take a detailed picture of the retina.
- Videonystagmography - This test checks eye movements that cannot be controlled, which can also be a sign of balance problems.
- Fundus Autofluorescence Imaging (Faf) Imaging - In this test, the eye doctor uses blue light to take a picture of the retina.
- Hearing Tests - The doctor checks for the signs of hearing loss or deafness.
- Genetic Testing- The child’s doctor may advise doing a genetic test to confirm the diagnosis of usher syndrome.