Usher syndrome


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Ush·er syn·drome

(ŭsh'ĕr), [MIM*276900, MIM*276901]
autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa.

Ush·er syn·drome

(ŭsh'ĕr), [MIM*276900, MIM*276901]
autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa.

Usher syndrome

(ŭsh′ər)
n.
An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa.

Usher syndrome

A genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness; the clinical forms—USH1, USH2 and USH3—are distinguished based on age at onset and differences in auditory and vestibular function.

USH1 is characterised by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. USH1D/F (OMIM:601067) patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance.

Molecular pathology
Defects of CDH23 cause Usher syndrome types 1D and 1D/F.

Usher syndrome

An AR condition characterized by retinitis pigmentosa–RP and sensorineural deafness

Ush·er syn·drome

(ŭsh'ĕr sin'drōm)
Autosomal recessive inheritance with genetic heterogeneity; the three forms are distinguishable by linkage data: Type 1 causes sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; types 2 and 3 are characterized by hearing loss and retinitis pigmentosa.

Usher,

Charles Howard, English ophthalmologist, 1865-1942.
Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.
References in periodicals archive ?
One of Lisa's nominated charities for the 10k race, which takes place on Sunday, May 11, is Deafblind Scotland, after the charity helped her come to terms with the Usher syndrome diagnosis.
Usher syndrome is considered to be the one accountable for "3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults.
Retintis Pigmentosa in this cohort was isolated in 65% of cases, and no case of Usher syndrome was noted.
There are many types of Usher syndrome tied to different errors in a patient's DNA - the blueprint for building every component of the body.
Interactions in the network of Usher syndrome type 1 proteins.
The sea urchin has many genes linked to human diseases such as Huntington's chorea, muscular dystrophy, Usher syndrome, neurological disorders, and atherosclerosis.
Further, RP may occur associated with various genetic disorders such as: Usher syndrome (3); Leber congenital amaurosis (4); Bardet-Biedl syndrome (5); Alstrom disease (6); and Phytanic acid storage disease (7) to name a few.
This has been observed, for example, in patients with X-linked RP, (5,6) as well as Usher syndrome, an autosomal recessively inherited disease characterized by RP and deafness.
National Institute on Deafness and Other Communication Disorders (NIDCD) News Release "Protein Tied to Usher Syndrome May Be Hearing's ‘Missing Link’", Tuesday, June 27, 2006
Some genetic conditions, such as Usher syndrome, can also result in deafblindness.