Usher syndrome: clinical features, molecular genetics and advancing therapeutics
M Toms, W Pagarkar… - Therapeutic advances in …, 2020 - journals.sagepub.com
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
[HTML][HTML] USH2A-retinopathy: From genetics to therapeutics
L Toualbi, M Toms, M Moosajee - Experimental Eye Research, 2020 - Elsevier
Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …
Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
LHM Pierrache, BP Hartel, E Van Wijk… - Ophthalmology, 2016 - Elsevier
Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or
without congenital sensorineural hearing impairment. We studied genotype–phenotype …
without congenital sensorineural hearing impairment. We studied genotype–phenotype …
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target …
C Neuhaus, T Eisenberger, C Decker… - Molecular genetics & …, 2017 - Wiley Online Library
Background Combined retinal degeneration and sensorineural hearing impairment is mostly
due to autosomal recessive Usher syndrome (USH 1: congenital deafness, early retinitis …
due to autosomal recessive Usher syndrome (USH 1: congenital deafness, early retinitis …
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies
FS Sorrentino, CE Gallenga, C Bonifazzi, P Perri - Eye, 2016 - nature.com
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by a
complex association between tremendous genotypic multiplicity and great phenotypic …
complex association between tremendous genotypic multiplicity and great phenotypic …
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
BP Hartel, M Löfgren, PLM Huygen, I Guchelaar… - Hearing Research, 2016 - Elsevier
Objectives Usher syndrome is an inherited disorder that is characterized by hearing
impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher …
impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher …
Systematic assessment of the contribution of structural variants to inherited retinal diseases
Despite increasing success in determining genetic diagnosis for patients with inherited
retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or …
retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or …
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
A Trouillet, E Dubus, J Dégardin, A Estivalet, I Ivkovic… - Scientific Reports, 2018 - nature.com
Abstract Usher syndrome type 1 (USH1) is a major cause of inherited deafness and
blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is …
blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is …
Syndromic Retinitis Pigmentosa
JS Karuntu, H Almushattat, AS Plomp… - Progress in Retinal and …, 2024 - Elsevier
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
[HTML][HTML] Establishing genotype–phenotype correlation in USH2A-related disorders to personalize audiological surveillance and rehabilitation
LP Molina-Ramírez, E Lenassi, JM Ellingford… - Otology & …, 2020 - journals.lww.com
Objective: USH2A-related disorders are characterised by genetic and phenotypic
heterogeneity, and are associated with a spectrum of sensory deficits, ranging from deaf …
heterogeneity, and are associated with a spectrum of sensory deficits, ranging from deaf …