Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes [PDF]
EMBO Molecular Medicine, 2022 Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far.
Sophia Grotz +39 more
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Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. [PDF]
PLoS ONE, 2012 Gbx2 encodes a DNA-binding transcription factor that plays pivotal roles during embryogenesis. Gain-and loss-of-function studies in several vertebrate species have demonstrated a requirement for Gbx2 in development of the anterior hindbrain, spinal cord,
David A Roeseler +7 more
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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. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss ...
Alessandro Castiglione, Claes Möller
exaly +5 more sources
Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families [PDF]
BiomoleculesHearing loss (HL) is a common sensory disorder, with syndromic forms accounting for ~30% of genetic cases. Due to phenotypic and genetic heterogeneity, accurate diagnosis remains challenging.
Khawla El Fizazi +7 more
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Outcomes of Late Implantation in Usher Syndrome Patients
International Archives of Otorhinolaryngology, 2017 Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language.
Ana Cristina H. Hoshino +4 more
doaj +3 more sources
Syndromic Retinitis Pigmentosa: A Narrative Review [PDF]
VisionRetinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP.
Márta Janáky, Gábor Braunitzer
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Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes [PDF]
Genes, 2019 Charles Helou +2 more
exaly +2 more sources
Vision loss and psychopathology
The Pan-American Journal of Ophthalmology, 2021 Purpose: By examining associations between vision loss and various types of psychopathology within the literature, this manuscript will provide ophthalmologists, psychiatrists, and psychologists insight into the relationships between vision and ...
John R Mark +3 more
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Ocular Manifestations in Patients with Sensorineural Hearing Loss
Journal of Ophthalmic & Vision Research, 2022 Identification of ocular manifestations in patients with sensorineural hearing loss (SNHL) can have a large impact on the outcome and treatment of pediatric patients.
Haniah A. Zaheer +4 more
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Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
Scientific Reports, 2023 When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have distinct effects on clinical phenotypes. Genotype–phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy.
Dong Woo Nam +10 more
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