Results 1 to 10 of about 435 (138)
Audiology Research, 2022 Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases.
Alessandro Castiglione, Claes Möller
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Zdravniški Vestnik, 2012 Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss.
Ana Fakin, Damjan Glavač, Marko Hawlina
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Philippine Journal of Ophthalmology, 2004 Objectives: To report of Usher syndrome at the East Avenue Medical Center. Method: This is a case report. Results: A 26-year-old female diagnosed to have Usher Syndrome base on the presence of retinitis pigmentosa and sensorineural hearing loss.
Marie Elisa P. Fermin, MD +1 more
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A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome
Frontiers in Cellular Neuroscience, 2020 Usher syndrome is a genetic disorder causing neurosensory hearing loss and blindness from retinitis pigmentosa (RP). Adaptive techniques such as braille, digital and optical magnifiers, mobility training, cochlear implants, or other assistive listening ...
Lucy S. French +5 more
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Usher syndrome: clinical features, molecular genetics and advancing therapeutics
Therapeutic Advances in Ophthalmology, 2020 Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction.
Maria Toms +2 more
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Frontiers in Genetics, 2020 Usher syndrome includes a group of genetically and clinically heterogeneous autosomal recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss.
Lianmei Zhang +9 more
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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report
BMC Ophthalmology, 2022 Background Usher Syndrome is the commonest cause of inherited blindness and deafness. The condition is clinically and genetically heterogeneous, with no current treatment.
Su Ling Young +4 more
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Children with Usher syndrome: mental and behavioral disorders
Behavioral and Brain Functions, 2012 Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome.
Dammeyer Jesper
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Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. [PDF]
PLoS ONE, 2014 Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes.
Hidekane Yoshimura +15 more
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In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype [PDF]
International Journal of Ophthalmology, 2016 AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.
Shamim Saleha +2 more
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