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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Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia [PDF]
Case Reports in Ophthalmological Medicine, 2012 Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Daniela Domanico +4 more
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Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey [PDF]
Journal of International Medical ResearchObjective This current cross-sectional study aimed to investigate the demographic characteristics and molecular epidemiology of patients with Usher syndrome in the Turkish population.
Abdurrahman Alpaslan Alkan +11 more
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Current approaches for Usher syndrome disease models and developing therapies [PDF]
Frontiers in Cell and Developmental BiologyUsher syndrome is a severely debilitating autosomal recessive disorder characterised by congenital or progressive hearing loss, gradual vision loss and in some subtypes, vestibular dysfunction.
Fiona K. Leith +17 more
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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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Bilateral Vasoproliferative Tumors in Usher Syndrome [PDF]
Case Reports in OphthalmologyIntroduction: Vasoproliferative tumors (VPTs) can be associated with retinal dystrophy, but there are few well-documented cases and even fewer linked to Usher syndrome. Most reported cases are unilateral.
Francesco Pichi +4 more
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A Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning [PDF]
BiomoleculesUsher syndrome, a rare genetic disorder causing both hearing and vision loss, presents significant diagnostic and therapeutic challenges due to its complex genetic basis.
Rama Krishna Thelagathoti +6 more
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Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis [PDF]
Orphanet Journal of Rare DiseasesBackground Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families.
L. Johansen +6 more
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Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report [PDF]
Journal of Nepal Medical AssociationUsher syndrome is a rare autosomal recessive disorder characterized by progressive sensorineural hearing loss and retinitis pigmentosa, typically present from birth and later symptoms, including loss of night vision and peripheral vision slowly ...
Bishal Yadav +5 more
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Adaptive optics retinal imaging in patients with usher syndrome [PDF]
Frontiers in OphthalmologyPurposeTo determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical ...
Melanie Kempf +8 more
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