Disease Information for Usher's syndrome

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Clinical Manifestations
Signs & Symptoms
Gait disturbance/abnormality
Mental Deficiency Child
Balance problems
Black spots on retina/fundoscopic exam
Night blindness/Impaired night vision
Peripheral vision/loss
Photophobia/Light sensitive
Retinal pigmentation
Tunnel Vision
Vision Loss
Visual acuity decreasing
Acute Hearing Loss
Hearing loss
Disease Progression
Course/Progressive
Demographics & Risk Factors
Established Disease Population
Patient/Congenital deafness.
Family History
Family history/Parental consanguinity
Family history/Deafness
Sex & Age Groups
Population/Child
Population/Young adult
Diagnostic Test Results
Other Tests & Procedures
Visual Fields Test Abnormal
Visual fields/Contracted fields/bilateral
Associated Diseases & Rule outs
Associated Disease & Complications
Bilateral vestibular failure
Blindness
Deafness
Deafness, congenital
Deafness, sensorineural
Falls/trauma
Hereditary Blindness
Mental retardation
Mutism
Retinal Degeneration/Dystrophy
Retinitis pigmentosa
Usher syndrome
Visual acuity loss
Hereditary Deafness/Sensorineural
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus 11p14
Pathophysiology/Gene locus 11p14-15.1
Pathophysiology/Gene locus 11p15.1
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus chromosome 21
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Dark adaptation/vision defect
Pathophysiology/Hereditary deafness
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Two/multiple subsets/disease pattern
Definition

A hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait---------------------------------------------

Usher Syndrome ; AKA Hereditary Deafness-Retinitis Pigmentosa ; Retinitis Pigmentosa and Congenital Deafness; Disorder Subdivisions Usher Type I; Usher Type II; Usher Type III ; and

Usher Type IV ; Usher syndrome is a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision. Researchers have identified three types of Usher syndrome and debated the existence of a fourth type. The age at which the disorder appears along with the severity of symptoms distinguishes the different types of Usher syndrome. Usher syndrome is inherited as an autosomal recessive genetic trait. The possible fourth type of Usher syndrome may be inherited as an X-linked genetic trait.

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Consanguinity often present in early cases. Usually retinitis pigmentosa occurs long after deafness which is usually congenital sensorineural.Retinitis with clumps of pigment begin in young adults with peripheral retinal degeneration, Tunnel vision, night blindness and less common macular degeneration appear and are progressive. This is a terrible blow for families/patients living with one deafness handicap to get a relentlessly progressive second one.

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External Links Related to Usher's syndrome
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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