Disease Information for Retinitis pigmentosa/congen. deafness

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Clinical Manifestations
Signs & Symptoms
Bilateral Vision Loss
Chronic Progressive Vision Loss
Chronic Vision Loss, Persistent
Decreasing visual acuity
Eye symptoms/signs
Ophthalmoscopic/Fundoscopic exam/abnormal
Peripheral vision/loss
Retinal pigmentation
Retinopathy signs on exam
Tunnel Vision
Vision Loss
Visual Problems
Visual symptoms
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Eye disorders/Blindness
Family history/Deafness
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Other Tests & Procedures
TEST/Audiometrics/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Blindness in Children
Deafness
Deafness, sensorineural
Hereditary Blindness
Retinitis pigmentosa
Retinopathy
Visual acuity loss
Hereditary Deafness/Sensorineural
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
CLASS/Retina involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Gene CJB2 (Connexin) gene mutation
Pathophysiology/Macular involvement/disorder (ex)
Pathophysiology/Hereditary deafness
Pathophysiology/Gene locus 8q11-q13
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Congenital/developmental (category)
Synonyms
Synonym
Retinitis pigmentosa congen deafness, Synonym/Usher syndrome
Treatment
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
Definition
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External Links Related to Retinitis pigmentosa/congen. deafness
Google
Wikipedia
Merck
Images
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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