Results 11 to 20 of about 435 (138)

A very rare association of fuchs heterochromic uveitis and ectropion uvea in usher syndrome

Advanced Biomedical Research, 2021
Usher syndrome is a heterogeneous genetic disease that is the most common cause of hereditary blindness–deafness. This syndrome is the most prevalent syndrome associated with retinitis pigmentosa.
Leila Rezaei, Rashed Ahmadyani
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Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

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, Serena Fragiotta, Paolo Trabucco, Marcella Nebbioso, Enzo Maria Vingolo   +4 more
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

BMC Ophthalmology, 2020
Background Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.
Dongjun Xing, Huaiyu Zhou, Rongguo Yu, Linni Wang, Liying Hu, Zhiqing Li, Xiaorong Li   +6 more
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Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function

Disease Models & Mechanisms, 2011
SUMMARY Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence.
Jennifer B. Phillips, Bernardo Blanco-Sanchez, Jennifer J. Lentz, Alexandra Tallafuss, Kornnika Khanobdee, Srirangan Sampath, Zachary G. Jacobs, Philip F. Han, Monalisa Mishra, Tom A. Titus, David S. Williams, Bronya J. Keats, Philip Washbourne, Monte Westerfield   +13 more
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Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

American Journal of Ophthalmology Case Reports, 2020
Purpose: Usher syndrome is a genetic disease characterized by combined sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia, with 15 known causative genes. Depending on the severity and onset of the symptoms, 3 different subtypes of
Víctor Abad-Morales, Rafael Navarro, Anniken Burés-Jelstrup, Esther Pomares   +3 more
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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

BMC Medical Genetics, 2019
Background Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communication.
Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin, Terry-Lynn Young   +11 more
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Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation [PDF]

Clinical and Experimental Otorhinolaryngology, 2020
Objectives We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with attention to severe or more than severe sensorineural hearing loss (SNHL).
Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo, Byung Yoon Choi   +8 more
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A Novel Frameshift Mutation of the Gene in a Korean Patient with Usher Syndrome Type II [PDF]

Clinical and Experimental Otorhinolaryngology, 2013
Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa.
Sung Hyun Boo, Min-Jung Song, Hee-Jin Kim, Yang-Sun Cho, Hosuk Chu, Moon-Hee Ko, Won-Ho Chung, Jong-Won Kim, Sung Hwa Hong   +8 more
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OCULAR ASPECTS OF USHER SYNDROM

Sanamed, 2020
Introduction: Usher Syndrome is a rare syndrom, which typical expressions are hearing loss, retinitis pigmentosa and in some cases impairment of balance and congenital cataract. It is inherited autosomal recessive.
Shekerinov Trpevska Natasha, Dashtevska Gjoshevska Emilija, Ivanova Maja   +2 more
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Genetic and phenotypic presentation of Usher syndrome - a case report

Rwanda Medical Journal
Usher syndrome is a genetic, clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are three phenotypically recognizable types of Usher syndrome.
N. Dukuze, E. Uwibambe, P. Sesonga, J. Niyongere, B. Tuyishimire, A. Urungwiro, J. Ndinkabandi, A. Rwamatwara, S. Niyoyita, G. Isingizwe, J. Mutamuliza, C. Nsanzabaganwa, J. Bukuru, F. Rutagarama, O. Karangwa, A. Ndatinya, C. Muhizi, L. Mutesa   +17 more
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