18 Facts About Usher syndrome

Usher syndrome, known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.

Usher syndrome is classed into three subtypes according to the genes responsible and the onset of deafness.

Usher syndrome is named after Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of the syndrome in 1914.

People with Usher syndrome I are born profoundly deaf and begin to lose their vision in the first decade of life.

People with Usher syndrome III are not born deaf but experience a progressive loss of hearing, and roughly half have balance difficulties.

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Usher syndrome is characterized by hearing loss and a gradual visual impairment.

Several genes have been associated with Usher syndrome using linkage analysis of patient families and DNA sequencing of the identified loci.

Study shows that three proteins related to Usher syndrome genes are involved in auditory cortex development, in mouse and macaque.

Since Usher syndrome is incurable at present, it is helpful to diagnose children well before they develop the characteristic night blindness.

Simplest approach to diagnosing Usher syndrome is to test for the characteristic chromosomal mutations.

Usher syndrome is a variable condition; the degree of severity is not tightly linked to whether it is Usher I, II or III.

Since Usher syndrome is inherited in an autosomal recessive pattern, both males and females are equally likely to inherit it.

However, some of the mutated genes associated with Usher syndrome encode very large proteins—most notably, the USH2A and GPR98 proteins, which have roughly 6000 amino-acid residues.

People with Usher syndrome represent roughly one-sixth of people with retinitis pigmentosa.

Usher syndrome is named after the Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of this illness in 1914 on the basis of 69 cases.

Usher syndrome reported the case of a deaf patient with retinitis pigmentosa, who had two brothers with the same symptoms.

Liebreich noted Usher syndrome to be recessive, since the cases of blind-deafness combinations occurred particularly in the siblings of blood-related marriages or in families with patients in different generations.

Usher syndrome's observations supplied the first proofs for the coupled transmission of blindness and deafness, since no isolated cases of either could be found in the family trees.