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 ?
Usher syndrome type 2a is an autosomal recessive genetic condition characterised by hearing loss from birth and progressive vision loss, due to retinitis pigmentosa, that begins in adolescence or adulthood.
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.
Bernstein et al., "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F," American Journal of Human Genetics, vol.
Zwaenepoel et al., "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C," Nature Genetics, vol.
Cognitive skills and reading in adults with Usher syndrome type 2.
I hope a cure is found for Usher syndrome. Max Cooper, Newcastle-upon-Tyne
But, incredibly, her elation proving bittersweet as she Jo, now 40, has an incurable rare condition called Usher syndrome meaning she was born profoundly deaf and with deteriorating sight.
In 2013, the EEOC filed suit against a large health care provider in Maryland alleging that it violated the ADA for failing to accommodate and then firing a pulmonary function technologist with Usher syndrome, a genetic disorder that results in impaired hearing and vision.