Results 11 to 20 of about 33,870 (219)

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, Waheeda Pagarkar, Mariya Moosajee   +2 more
doaj   +2 more sources

Usher syndrome

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, Jocelyn L. Sy, MD   +1 more
doaj   +1 more source

A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family [PDF]

Orphanet Journal of Rare Diseases
Background Usher syndrome type 3 (USH3) is an autosomal recessive inherited disorder caused by pathogenic variants in the CLRN1 gene. Object To evaluate the genotype-phenotype correlation of Usher syndrome type 3 (USH3) in a deaf-blind Chinese family of ...
Suyang Wang, Chen Yang Xu, Yiming Zhu, Wenjuan Ding, Jieyu Hu, Baicheng Xu, Yufen Guo, Xiaowen Liu   +7 more
doaj   +2 more sources

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, Carla B. Mellough, Fred K. Chen, Fred K. Chen, Fred K. Chen, Livia S. Carvalho   +5 more
doaj   +1 more source

Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient

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, Lianmei Zhang, Jingliang Cheng, Qi Zhou, Md. Asaduzzaman Khan, Jiewen Fu, Chengxia Duan, Suan Sun, Hongbin Lv, Junjiang Fu   +9 more
doaj   +1 more source

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, Chloe M. Stanton, Benjamin J. Livesey, Joseph A. Marsh, Peter D. Cackett   +4 more
doaj   +1 more source

Visual acuity and full-field electroretinography in patients with Usher's syndrome [PDF]

, 2005
PURPOSE: Usher's syndrome (US) is a group of genetically distinct autossomal conditions, characterized by sensorineural hearing loss accompanied by a retinal dystrophy indistinguishable from retinitis pigmentosa (RP).
Berezovsky, Adriana, Fantini, Sérgio Costa, Mendieta, Luana, Pereira, Josenilson Martins, Sacai, Paula Yuri, Salomão, Solange Rios   +5 more
core   +4 more sources

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, Satoshi Iwasaki, Shin-Ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-Ichi Usami   +15 more
doaj   +1 more source

Retinitis pigmentosa: evaluation of the vestibular system with cervical and ocular vestibular evoked myogenic potentials and the video head impulse test [PDF]

, 2015
OBJECTIVE: Retinitis pigmentosa (RP) represents a group of inherited disorders in which abnormalities of the photoreceptors lead to progressive visual loss.
GAGLIARDI, SILVIA, IANNELLA, GIANNICOLA, IOZZO, NICOLA, MAGLIULO, Giuseppe, PLATEROTI, PASQUALE, PLATEROTI, Rocco, VINGOLO, Enzo Maria   +6 more
core   +1 more source

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
doaj   +1 more source