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 ?
Grade Special needs (all ages) Grades 1-3 Number of 7 1 students Diagnosis Usher syndrome, coloboma, Progressive high CVI, CHARGE syndrome, myopia, Goldenhar syndrome, nystagmus Duane's syndrome Grade Grades 4-5 Grades 6-8 Grades 9-12 Number of 2 1 0 students Diagnosis Usher syndrome, Usher syndrome strabismus, astigmatism Work-readiness Grade program Number of 1 students Diagnosis Usher syndrome CVI = cortical visual impairment.
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.
When mice with Usher syndrome were injected with the "genetic patch" they grew up able to hear and had no balance problems.
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.
The gene for Type 1C Usher syndrome (USH1C) is segregating in a small population of Acadian descendants from southwestern Louisiana.
She discovered that she had Usher syndrome, a genetic condition combining hearing loss and Retinitis Pigmentosa (RP), a major cause of deaf-blindness.
Specialized equipment ranging from speaker phones to laptops to iPads can be tailored to meet the needs of any person - from a young deaf man with Usher Syndrome who is gradually losing his eyesight and wants to resume his college education, to a grandmother who can't navigate her computer yet yearns to keep up with her grandchildren through email.
Jo was diagnosed with the rare condition Usher Syndrome at 29, and has been deaf since birth.