Usher syndrome is a very rare genetic disorder that results in the combination of visual impairment and hearing loss, the grouping of which leads to a case called deaf blindness. Usher Syndrome can go by many names, including Hallgren Syndrome, Usher-Hallgren Syndrome, retinitis pigmentosa-dyascusis syndrome, and dystrophia retinae dyascusis syndrome.
Whatever the name, though, Usher Syndrome is an incredibly serious disorder that obviously affects the quality of life of the person who suffers. There is no cure for Usher Syndrome at the present time, though gene therapy is being used to replace the missing genes in patients, and scientists have recently succeeded in reversing Usher Syndrome in laboratory mice.
The syndrome is caused by a defective inner ear, combined with a genetic condition that associates vision loss with retinitis pigmentosa, which is a genetic degeneration of the retinal cells in the eyes. This begins by leading to early night blindness, followed by a loss of peripheral vision.
Usher Syndrome is caused by the mutation of genes, and the absence of certain genes, and can be manifested as Usher 1, 2, or 3. Usher Syndrome Part 3, for example, may find a patient unaffected in childhood, only to grow up and develop profound hearing loss and blindness by early adulthood. Usher 1 and 2 are primarily associated with the mutation of various genes, and are primarily found during childhood or at birth.
The symptoms of Usher Syndrome go one of two ways. In many patients, they begin at birth or when they are extremely young, as the genes that have mutated have done so early and create a permanent and lasting Usher Syndrome. It is obviously difficult to predict these symptoms, as issues will have surface well after anything can be done about them, short of a reversal and a cure.
In other patients, type 3 Usher Syndrome presents itself later in life, beginning with small bouts of night blindness. This turns into a gradual loss of a patient’s peripheral vision, which in turn becomes full on blindness and deafness as a combination. Obviously, for patients in adulthood, this can be a significant problem and a difficult disorder to live with, accounting for the degeneration of senses.
Usher Syndrome is a very serious and severe disorder. At present, it is incurable, unfortunately, but there is hope that in the future there will be a method the medical community can use to reverse or halt this degeneration and return patients to a normal quality of life with their sight and hearing intact.