Usher Syndrome 1C
Usher Syndrome 1C 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.
Usher Syndrome 1C 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.
Usher Syndrome 1C 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.
Usher Syndrome 1C 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.
Usher Syndrome 1C 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.