Usher syndrome usually affects children.
Usher syndrome has three types:
- Usher syndrome type I
- Usher syndrome type II
- Usher syndrome type III
What causes Usher syndrome?
All three types of Usher syndrome are inherited from autosomal recessive traits. Most genetic diseases are determined by the two copies of genes, one from the father and one from the mother. Recessive genetic factors occur when the gene is copied from a single trait with abnormal genes from both parents.
Genetic mutations in the following genes cause Usher syndrome:
- Usher syndrome type I: Mutations in MYO 7A (USH1B), USH1C, PCDH15 (USH1F), SANS (USH1G), and CIB 2 genes.
- Usher syndrome type II: Mutations in USH2A, ADGRV1, WHRN (DFNB31) genes.
- Usher syndrome type III: Mutations in USH3A (CLRN1) and HARS genes
What are the symptoms of Ushers syndrome?
The following are the symptoms of Ushers syndrome:
- Hearing loss: The gene mutations affect the cochlea or a spiral structure in the ears, resulting in hearing problems. Children may have moderate to severe hearing loss.
- Vision problems: The gene mutations affect light-sensing cell rods and cones, resulting in vision problems. Children may experience vision problems because of retinitis pigmentosa, a condition in which the retina gets damaged. The primary signs of retinitis pigmentosa are unable to see in dim light or night blindness. The condition worsens and leads to permanent blindness.
- Balance problems: Hearing and vision problems may lead to poor coordination and result in balance problems.
How to diagnose Ushers syndrome
The following methods diagnose Usher syndrome:
- Genetic tests: A sample of blood is analyzed to identify the gene mutation. The only way to confirm the diagnosis of Usher syndrome.
- Hearing tests: An otolaryngologist and audiologist use different hearing tests to measure the child’s hearing capacity.
- Vision tests: An ophthalmologist checks the child's vision, the condition of the retina, and peripheral vision.
How is Usher syndrome treated?
There is no complete cure for Usher syndrome. The treatment focuses on improving vision and hearing and enabling independent communication and functioning.
The following can help address vision and hearing problems:
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Usher Syndrome. https://my.clevelandclinic.org/health/diseases/15046-usher-syndrome
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Usher Syndrome. https://rarediseases.org/rare-diseases/usher-syndrome/
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