Usher Syndrome 1C

Below you will find more information about Usher Syndrome 1C from Medigest. If you believe that you are suffering from any of the symptoms of Usher Syndrome 1C it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Usher Syndrome 1C and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Usher Syndrome 1C comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Usher syndrome type 1C is a rare inherited disorder characterized by sensorineural deafness and progressive vision loss, which starts during the first decade of life. The disorder is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that Usher syndrome, type 1C, or its subtype affects less than 200,000 people in the US population.

Diagnosis

It is best to diagnose children before they develop night blindness. Testing the characteristic chromosomal mutations is the simplest approach to diagnosing Usher syndrome. Electroretinography (ERG) meanwhile is an alternative approach but is not favored because of the discomfort it causes the children.

Treatment

There is no cure yet for the disorder and since it is a result of a loss of gene, gene therapy may improve it. That is the added protein becomes functional. Mouse models on recent studies have shown that replacing the mutant gene with a lentivirus can alleviate the situation. However, Usher syndrome encodes very large proteins, making gene replacement therapy a difficult procedure to take on.

Symptoms and Signs

Usher syndrome type 1C is a rare inherited disorder characterized by sensorineural deafness and progressive vision loss, which starts during the first decade of life. The disorder is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means that Usher syndrome, type 1C, or its subtype affects less than 200,000 people in the US population.

Causes

It can be caused by mutations in any one of several different genes namely CDH23, MYO7A, PCDH15, USH1C, and USH1G. Said genes function in the development and maintenance of the inner ear structures such as hair cells, which transmits sound and motion to the brain.

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