Usher syndrome

(redirected from Ushers syndrome)

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.
Farlex Partner Medical Dictionary © Farlex 2012

Usher syndrome

(ŭsh′ər)
n.
An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Usher syndrome

An AR condition characterized by retinitis pigmentosa–RP and sensorineural deafness
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Usher,

Charles Howard, English ophthalmologist, 1865-1942.
Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
"With the ongoing trials in LCA10 and Ushers syndrome type 2, and the start of our clinical program for adRP later this year, we are breaking new ground and paving the way for new treatments in multiple severe inherited retinal diseases." ILLUMINATE, or PQ-110-003, is a randomized, prospective, double-masked, sham-controlled 24-month trial of sepofarsen that will initially enroll 30 adults and children who have LCA10 due to one or two copies of the p.Cys998X mutation in the CEP290 gene and a baseline best corrected visual acuity of 3.0 LogMAR or better.
Westport, CT, August 11, 2017 --(PR.com)-- MD Stem Cells' study called The Stem Cell Ophthalmology Treatment Study II or SCOTS 2 is showing promising results in a form of Retinitis Pigmentosa (RP) called Ushers Syndrome.
The 34-year-old, who has been deaf since birth and is losing his sight to genetic condition Ushers Syndrome, trekked for four days.
It was as a result of a condition known as Ushers Syndrome that she began to suffer at the age of 19.
Mr Brookes, who was born deaf, developed the progressive condition Ushers Syndrome and began losing his sight at the age of 19.
She has a more serious form of the disease, Ushers Syndrome, which seriously impairs her eyesight and her hearing.
The mother-of-two and grandmother of three grandsons sufferers from Ushers Syndrome. This robs its victims of their sight and hearing by the time they reach adulthood.