É uma síndrome (um conjunto de características médicas) que combina surdez neurossensorial (um tipo de surdez que afeta o ouvido interno ou o nervo da audição, geralmente presente desde o nascimento) com retinite pigmentosa (uma doença que atinge os olhos) e perda progressiva da visão.
Introdução
O que você precisa saber de cara
A síndrome de Usher é uma condição caracterizada por perda auditiva parcial ou total e perda de visão que piora ao longo do tempo. A perda auditiva é classificada como sensorioneural, o que significa que é causada por anomalias do ouvido interno. A perda de visão é causada por uma doença ocular chamada retinite pigmentosa (RP), que afeta a camada de tecido sensível à luz na parte posterior do olho (a retina). A perda de visão ocorre à medida que as células sensoriais da retina se degradam gradualmente. A perda da visão noturna ocorre primeiro, seguida por pontos cegos que se desenvolvem na visão lateral (periférica). Com o tempo, esses pontos cegos aumentam de tamanho e se fundem, produzindo visão em túnel. Em alguns casos, a visão é ainda mais prejudicada pelo embaçamento da lente do olho (catarata). No entanto, muitas pessoas com retinite pigmentosa mantêm alguma visão central ao longo de suas vidas.
Pesquisadores identificaram três tipos principais de síndrome de Usher, designados como tipos I, II e III. Esses tipos são diferenciados pela gravidade da perda auditiva, pela presença ou ausência de problemas de equilíbrio e pela idade em que os sinais e sintomas aparecem. Os tipos são subdivididos em subtipos com base em sua causa genética.
A maioria das pessoas com síndrome de Usher tipo I nasce com perda auditiva grave a profunda. A perda de visão, que piora devido à retinite pigmentosa, torna‑se evidente na infância. Esse tipo de síndrome de Usher também causa anomalias do sistema vestibular, que é a parte do ouvido interno que ajuda a manter o equilíbrio e a orientação do corpo no espaço. Como resultado das anomalias vestibulares, crianças com a condição têm dificuldade de equilíbrio. Elas começam a sentar de forma independente e a caminhar mais tarde do que o usual, e podem ter dificuldade para andar de bicicleta e praticar certos esportes.
A síndrome de Usher tipo II é caracterizada por perda auditiva desde o nascimento e perda de visão progressiva que começa na adolescência ou na idade adulta. A perda auditiva associada a esse tipo varia de leve a grave e afeta principalmente a capacidade de ouvir sons de alta frequência. Por exemplo, é difícil para as pessoas afetadas ouvir sons de fala altos e suaves, como os das letras d e t. O grau de perda auditiva varia dentro e entre as famílias com essa condição, e pode tornar‑se mais grave ao longo do tempo. Ao contrário das outras formas de síndrome de Usher, o tipo II não está associado a anomalias vestibulares que causem dificuldades de equilíbrio.
Pessoas com síndrome de Usher tipo III experimentam perda auditiva e perda de visão que começam um pouco mais tarde na vida. Ao contrário das outras formas de síndrome de Usher, o tipo III geralmente está associado a audição normal ao nascer. A perda auditiva costuma iniciar na infância tardia ou na adolescência, após o desenvolvimento da fala, e torna‑se mais grave ao longo do tempo. Na meia‑idade, a maioria das pessoas afetadas tem perda auditiva profunda. A perda de visão causada pela retinite pigmentosa também se desenvolve na infância tardia ou na adolescência. Algumas pessoas com síndrome de Usher tipo III desenvolvem anomalias vestibulares que causam problemas de equilíbrio.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoÉ uma síndrome (um conjunto de características médicas) que combina surdez neurossensorial (um tipo de surdez que afeta o ouvido interno ou o nervo da audição, geralmente presente desde o nascimento) com retinite pigmentosa (uma doença que atinge os olhos) e perda progressiva da visão.
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1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 73 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
16 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Usher syndrome 3B
A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
Deafness, autosomal recessive, 36, with or without vestibular involvement
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients.
Deafness, autosomal recessive, 48
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.
Cone-rod dystrophy and hearing loss 1
An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Usher syndrome 3A
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
Usher syndrome 2C
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Usher syndrome 1C
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 1B
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Deafness, autosomal recessive, 57
A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB57 severity ranges from moderate to severe.
Usher syndrome 1G
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 1D
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 2A
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Usher syndrome 1F
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Deafness, autosomal recessive, 31
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Usher syndrome 4
A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive.
Variantes genéticas (ClinVar)
316 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 8.716 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
24 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Usher
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 740
Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Mutation in USH2A gene cause autosomal recessive retinitis pigmentosa (RP) and Usher syndrome type II (USH2), constituting over 50% of USH2 and approximately 7% of RP. Here, we report the establishment of a human induced pluripotent stem cell (iPSC) line, BTHBIOi002-A, derived from the peripheral blood mononuclear cells (PBMCs) of a USH2 patient with compound heterozygous mutation in USH2A (c.[2512C>T]; [2802 T>G]), using the non-integrating episomal plasmids delivered by electroporation with OCT4, SOX2, NANOG, LIN28, c-Myc, and KLF4. The established iPSC line was validated for the karyotype stability, pluripotency markers, and the ability to differentiate into all three germ layers.
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
Pathological USH2A mutations cause Usher syndrome type II, characterized by progressive retinitis pigmentosa and hearing and balance impairment. This study aims to investigate the cellular mechanisms underlying USH2A-related retinal degeneration using human induced pluripotent stem cell (hiPSC)-derived retinal organoids. The introduction of a homozygous nonsense mutation in the USH2A hotspot exon-13 resulted in normal photoreceptor development but loss of ciliary localization of usherin long form B and its interacting proteins, ADGRV1 and whirlin. Notably, single-cell RNA sequencing revealed unexpected significant transcriptional changes in Müller glial cells (MGCs), suggestive of disruptions in the translation, innate immune response, and endolysosomal system. These findings suggest that, while photoreceptor cells are mildly affected by the exon-13 USH2A mutation, MGCs exhibit major transcriptional changes, potentially contributing to the disease progression and therefore shedding light on potential alternative therapeutic targets.
Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.
Usher syndrome is the leading cause of inherited deaf-blindness, with type 2 (Usher syndrome type 2, USH2) being the most common form. USH2A, ADGRV1, and WHRN are the three known USH2 causative genes, which are also linked to isolated retinal degeneration and hearing loss. These genes encode usherin, ADGRV1, and whirlin, respectively, collectively called USH2 proteins. These proteins form a multiprotein complex (USH2 complex) at the periciliary membrane in retinal photoreceptors and at the stereociliary ankle link in inner ear hair cells. The molecular function of the USH2 complex and its disease mechanisms are poorly understood. Currently, there is no cure for diseases caused by mutations in the three USH2 genes. In this study, we employed multiple affinity purification methods combined with mass spectrometry to systematically identify the interaction partners of USH2 proteins in the retina. The ADGRV1 intracellular bait pulled down proteins involved in actin-based cell projections, the chaperone-containing TCP-1 complex, and the Bardet-Biedl syndrome complex. The extracellular domains of ADGRV1 and usherin pulled down proteins related to peptidase regulation, collagen biosynthesis and modification, and elastic fiber formation. The EAR/EPTP repeats of ADGRV1 specifically pulled down TGFβ signaling proteins. Further immunoprecipitation experiments identified, with high confidence, Gαi and Gαq as ADGRV1-interacting proteins, and retinal degeneration and ciliary proteins as interaction partners of USH2 proteins. We also demonstrated that the usherin extracellular domains interact with each other and with ADGRV1. Overall, these findings suggest that the USH2 complex connects the extracellular matrix (ECM) to the intracellular actin network, signals through Gαi and Gαq, and participates in ECM remodeling, TGFβ signaling, cell adhesion, and ciliary function in photoreceptors.
Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
Usher syndrome type III (USH3) is a genetic disorder characterized by progressive, post-lingual hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa. USH3 is caused by mutations in CLRN1, which encodes clarin-1, a tetraspanin-like protein. Mutations in CLRN2, which encodes the related protein clarin-2, are also implicated in progressive, non-syndromic hearing loss in both humans and mice. USH3 patients show considerable phenotypic variability, even among individuals with the same mutation. This variability may result from environmental factors or interactions with other inner ear genes, such as CLRN2. To investigate the functional interplay of these genes, we generated Clrn1- /-Clrn2-/- double knockout mice. RNA-sequencing and functional/physiological analyses revealed that clarin-1 and clarin-2 jointly regulate mechanoelectrical transduction, ionic homeostasis, and synaptic organization. Their combined loss leads to more severe hearing phenotype compared to Clrn1-/- and Clrn2-/- mice, which reveals a functional compensation between them. CLRN2 variants may exacerbate hearing loss in USH3 patients, supporting inclusion of CLRN2 in genetic screening. By revealing a functional, compensatory interplay between clarin-1 and clarin-2, this study reframes CLRN1-associated deafness as a network-dependent disorder and provides a mechanistic basis for genetic stratification and therapeutic directions in USH3 and related sensorineural hearing loss.
Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Usher syndrome type 1B (USH1B) is a rare inherited disorder characterized by congenital deafness and progressive retinitis pigmentosa, caused by biallelic pathogenic variants in the MYO7A gene. We explored extracellular vesicles (EVs) from two sources: human tears and iPSC-derived RPE cells from USH1B patients and controls. Tear EVs were assessed as a non-invasive biomarker source, while RPE-derived EVs provided insights into disease mechanisms in a controlled, cell-type-specific context. Although RPE differentiation was successful and MYO7A expression levels were similar between patients and controls, Myosin VIIA was not detected by western blot in the patient-derived cells. We examined the EV cargo by small non-coding RNAs (sncRNAs) sequencing from iPSC-RPE apical site and tears to identify molecular signatures of retinal degeneration. Tear EVs showed higher load and diversity of miRNAs than RPE-derived EVs, reflecting a broader ocular origin. Comparative analysis revealed shared retinal sncRNAs (hsa-miR-204, hsa-miR-211, hsa-miR-181a-5p) and group-specific differences. Notably, when comparing to controls, hsa-miR-200a-3p and hsa-miR-194-5p were upregulated in patient tear EVs, while let-7i/c-5p and hsa-miR-320a/b, were downregulated in-patient RPE-derived EVs. Pathway analysis linked these sncRNAs to retinal structure and function, including cytoskeletal remodeling and junctional integrity. Our findings highlight the potential of tear EVs as a non-invasive source of biomarkers that capture retinal molecular alterations in USH1B, with applications for diagnosis, monitoring, and therapeutic development. Although this is a pilot study focused on uncovering promising biomarkers rather than establishing definitive cause-effect mechanisms, it provides a foundation for future research with larger cohorts to validate and expand these findings.
Publicações recentes
A regulatory axis for tonotopic MYO7A expression in cochlear hair cells.
From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation.
Identification of a recessive PCDH15 nonsense variant in purebred goats with vestibular dysfunction.
Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant MYO7A-Associated Hearing Loss Patients.
Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.
📚 EuropePMC796 artigos no totalmostrando 197
Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.
Molecular visionFunctional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.
The Journal of pathologyRetinal vasoproliferative tumors in pediatric retinal dystrophies.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSomatic mosaicism of a novel USH2A variant in Usher syndrome.
Ophthalmic geneticsSpontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report.
BMC ophthalmologyGeneration of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Stem cell researchNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
International journal of molecular sciencesPathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyFrom Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyCDH23-associated Usher syndrome: genotype-phenotype correlations.
Ophthalmic geneticsCharacterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.
Molecular & cellular proteomics : MCPAnalysis of Cytosine Base Editors in Bovine Zygotes: Efficiency and Editing Window Characterization Through Targeting the MYO7A Gene.
Current issues in molecular biologyCompensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Cellular and molecular life sciences : CMLSInherited retinal disorders in Scotland: A 5 year assessment.
Eye (London, England)A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.
Molecular genetics & genomic medicineGenetic diversity of Usher syndrome in Moroccan patients.
Human geneticsListening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome-Our Experience.
Audiology researchAtypical Case of Pemphigus Erythematosus in a Previously Healthy Young Woman: Diagnostic Delay and Response to Rituximab.
CureusGenetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Proceedings of the National Academy of Sciences of the United States of AmericaCloud-Based Personalized sEMG Classification Using Lightweight CNNs for Long-Term Haptic Communication in Deaf-Blind Individuals.
Bioengineering (Basel, Switzerland)Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.
JAMA ophthalmologyEpidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.
The Journal of international medical researchCompound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C.
Ophthalmic geneticsA sound vision: MYO7A gene therapy reaches the inner ear.
The Journal of physiologyIdentification of a variant in the USH1G gene in a family with Usher syndrome.
Biomedica : revista del Instituto Nacional de SaludExploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa.
Molecular therapy. Nucleic acidsAdeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.
The Journal of physiologyStructural Abnormalities of the Brain Detected by 7 Tesla MRI in Patients with Usher Syndrome.
Journal of clinical medicineAAV-mediated exon skipping therapy for Usher syndrome, type 2A.
Molecular therapy : the journal of the American Society of Gene TherapyClinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.
Journal of multidisciplinary healthcareComputational study of deleterious missense SNPs in the USH1G gene implicated in Usher syndrome.
Journal of biomolecular structure & dynamicsInherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
BMC medical genomicsAuthor Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Nature geneticsBilateral Ring-Shaped Retinitis Pigmentosa in Usher Syndrome Type IV.
Ophthalmology. RetinaAutoimmune encephalitis associated with antibodies against α-enolase sequestrated from degenerating retina in retinitis pigmentosa.
BMC ophthalmologyNGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.
Journal of applied genetics[Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryCiliopathy: Usher Syndrome.
Advances in experimental medicine and biologyPhenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
GenesExploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.
GenesA Hybrid Sequential Feature Selection Approach for Identifying New Potential mRNA Biomarkers for Usher Syndrome Using Machine Learning.
BiomoleculesAn Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.
Methods in molecular biology (Clifton, N.J.)[Inherited retinal disorders: Current therapeutic options and future perspectives].
Klinische Monatsblatter fur AugenheilkundeIdentification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome.
Human mutationNovel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy.
Epileptic disorders : international epilepsy journal with videotapePediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report.
JNMA; journal of the Nepal Medical AssociationLiquid-Liquid Phase Separation in Hereditary Hearing Loss.
Neuroscience bulletinCurrent approaches for Usher syndrome disease models and developing therapies.
Frontiers in cell and developmental biologyMutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family.
Molecular visionCharacterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
The British journal of ophthalmologyTHE IMPACT OF CYSTOID MACULOPATHY IN USH2A RETINITIS PIGMENTOSA : A Retrospective 5-year Analysis.
Retina (Philadelphia, Pa.)Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.
Human genomicsPHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.
Cerebellum (London, England)De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.
American journal of medical genetics. Part AAlpelisib Therapy in 2 Patients With Congenital Hyperinsulinism.
JCEM case reportsOutcomes of cochlear implants in patients with PCDH15 mutations: a clinical study.
Frontiers in geneticsNonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.
IUBMB lifeResolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.
American journal of medical genetics. Part AGene Duplication in a Patient With Usher Syndrome Type 2C: A Case Report.
CureusZebrafish cdh23 Affects Rod Cell Phototransduction Through Regulating Ca2+ Transport and MAPK Signaling Pathway.
International journal of molecular sciencesMachine Learning-Based Ensemble Feature Selection and Nested Cross-Validation for miRNA Biomarker Discovery in Usher Syndrome.
Bioengineering (Basel, Switzerland)Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations.
IUBMB lifePatient reported outcomes in Usher Syndrome: a systematic review.
Ophthalmic geneticsVestibular Phenotype-Genotype Correlation in a Cohort of 35 European Usher Syndrome Patients.
American journal of audiologyComputational study of the potential impact of WHRN protein missense SNPs on WHRN-MYO15A protein complex interaction and their association with Usher syndrome.
Journal of biomolecular structure & dynamicsSyndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Molecular visionHaploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.
Journal of the Association for Research in Otolaryngology : JAROEthnic disparities in inherited retinal degenerations.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieNatural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study.
American journal of ophthalmologyClinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
BMC ophthalmologyDetailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Investigative ophthalmology & visual scienceA Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
American journal of medical genetics. Part C, Seminars in medical geneticsBilateral Vasoproliferative Tumors in Usher Syndrome.
Case reports in ophthalmologyA Tonotopic Regulatory Axis Governing Isoform-Specific MYO7A Expression in Cochlear Hair Cells.
bioRxiv : the preprint server for biologyTonotopic Specialization of MYO7A Isoforms in Auditory Hair Cells.
bioRxiv : the preprint server for biologySingle-guide RNA Cas9 and enhanced-deletion Cas9 rescue a recurrent USH2A-related splicing defect.
Molecular therapy. Nucleic acidsOptic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.
Case reports in geneticsGeneration of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant.
Stem cell researchClozapine Use Among Individuals With Schizophrenia Occurring on the Background of Intellectual Disability and Rare Genetic Variation: A Retrospective Chart Review.
Journal of clinical psychopharmacologyUsher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.
GenesEtiologies of Early-Onset Hearing Impairment in Rwanda.
GenesThe BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia.
Frontiers in cell and developmental biologyThe USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.
PLoS geneticsDeciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.
Genome researchAdoption and usability of a braille communication assistive device (CAD) for face-to-face and remote communication in two users with deafblindness.
Disability and rehabilitation. Assistive technologyImprovement of perceived cochlear implant sound quality through individualized psychoacoustic-based frequency fitting.
Zeitschrift fur medizinische PhysikA Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with Novel MYO7A Variant P.Ser383TrpfsTer64.
Beyoglu eye journalThe Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
International journal of molecular sciencesA Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.
Advances in experimental medicine and biologyLoss of Usher II Proteins in Mice Does Not Affect Photoreceptor Ultrastructure.
Advances in experimental medicine and biologyIdentification of Unexpected Pathomechanisms Underlying the Human Usher Syndrome.
Advances in experimental medicine and biologyComparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.
Communications biologyA Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.
Molecular genetics & genomic medicineFrom bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases.
Pharmacological researchWITHDRAWN: Retinal Phenotypes and Single-cell Sequencing Analysis of Ush2a Knockout Mice.
Experimental eye researchSystematic empirical evaluation of individual base editing targets: Validating therapeutic targets in USH2A and comparison of methods.
Molecular therapy : the journal of the American Society of Gene TherapyLong-Lasting Auditory and Vestibular Recovery Following Gene Replacement Therapy in a Novel Usher Syndrome Type 1c Mouse Model.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.
Pharmaceuticals (Basel, Switzerland)Senear-Usher Syndrome or Coexistence of SLE with Pemphigus Vulgaris-A Case Report with Literature Review.
Journal of clinical medicineGenotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Scientific reportsUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet journal of rare diseasesActigraphy-based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case-control study.
Journal of sleep researchSyndromic retinitis pigmentosa.
Progress in retinal and eye researchVariants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
European journal of human genetics : EJHGExploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Molecular therapy. Nucleic acidsThe phenotypic spectrum of CEP250 gene variants.
Ophthalmic geneticsA Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.
International journal of molecular sciencesNuclear-Cytoplasmic Shuttling of the Usher Syndrome 1G Protein SANS Differs from Its Paralog ANKS4B.
CellsPrevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
The LaryngoscopeType 2 Usher Syndrome - A Cause for Sensorineural Hearing Loss.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaKey challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.
Journal of community geneticsPHARC syndrome: an overview.
Orphanet journal of rare diseasesFine-scale genetic structure and rare variant frequencies.
PloS onePCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
The Journal of clinical investigationIntestinal Tuft Cells Are Enriched With Protocadherins.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry SocietyGenotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.
International journal of molecular sciencesA rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.
Orphanet journal of rare diseasesMultiBac System-based Purification and Biophysical Characterization of Human Myosin-7a.
Journal of visualized experiments : JoVECochlear implantation in syndromic patients: difficulties and lessons learnt.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryMucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?
Diagnostics (Basel, Switzerland)Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
Clinical geneticsConcomitant ulcerative colitis and Usher syndrome in a Pakistani patient: A novel case report.
SAGE open medical case reportsUsher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene.
Cell journalA novel compound heterozygous variant of MYO7A in Usher syndrome type 1.
Experimental eye researchInvestigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
CellsLong-term natural history of ellipsoid zone width in USH2A-retinopathy.
The British journal of ophthalmologyMild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.
Ophthalmic geneticsBalance Control Impairments in Usher Syndrome.
Ear and hearingA large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
BMC ophthalmologyCDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
Investigative ophthalmology & visual scienceUsher syndrome in the United Arab Emirates.
Ophthalmic geneticsGeneration of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant.
Stem cell researchLong-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Ear and hearingAdaptive optics retinal imaging in patients with usher syndrome.
Frontiers in ophthalmologyA Case Report on Senear-Usher Syndrome.
CureusElasticity and Thermal Stability are Key Determinants of Hearing Rescue by Mini-Protocadherin-15 Proteins.
bioRxiv : the preprint server for biologyMulticentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Investigative ophthalmology & visual scienceHigh prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
Orphanet journal of rare diseasesOptical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Molecular genetics & genomic medicineSelf-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.
Investigative ophthalmology & visual scienceMice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature.
Translational psychiatryA novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
Molecular biology reportsSenear-Usher syndrome in a 5-year-old girl.
Postepy dermatologii i alergologiiA New Mouse Model for Usher Syndrome Crossing Kunming Mice with CBA/J Mice.
GeneNationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
JAMA ophthalmologyCurrent updates on genetic spectrum of usher syndrome.
Nucleosides, nucleotides & nucleic acidsCurrent phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Frontiers in geneticsPendular Nystagmus Presenting in Usher Syndrome Type I: A Case Report.
Journal of the American Academy of AudiologySyndromic Retinitis Pigmentosa: A 15-Patient Study.
GenesPRPS1-associated retinopathy: a diagnostic odyssey.
Ophthalmic geneticsOptical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy.
European journal of ophthalmologyThe prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Scientific reportsPathophysiology of human hearing loss associated with variants in myosins.
Frontiers in physiologyNavigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.
Audiology researchExploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis.
Orphanet journal of rare diseasesDisease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Journal of medical geneticsCO-OCCURRING USHER SYNDROME TYPE 1 AND RENAL FAILURE.
Retinal cases & brief reportsExpanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
CureusBioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss.
Frontiers in pediatricsVestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2.
Scientific reportsLived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.
Orphanet journal of rare diseasesSpectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
BMC ophthalmology[Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryOptical coherence tomography in children with inherited retinal disease.
Clinical & experimental optometryExtended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model.
JCI insightGenetic profile of syndromic retinitis pigmentosa in Portugal.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieLate-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
American journal of medical genetics. Part AIdentification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report.
The Journal of international medical researchPathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome.
International journal of molecular sciencesFunctional Vision in Patients With Biallelic USH2A Variants.
American journal of ophthalmologyWhich Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.
Audiology researchMultimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits.
Scientific reports[Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyOverlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.
Psychiatry researchThe p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Ophthalmic researchPCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
bioRxiv : the preprint server for biologyAllelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.
Scientific reportsHearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaNovel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss.
Science bulletinA Recalcitrant Case of Senear-Usher Syndrome Treated With Rituximab.
CureusOutcomes of cochlear implantation in Usher syndrome: a systematic review.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryNovel pathogenic WHRN variant causing hearing loss in a moroccan family.
Molecular biology reportsThird-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B.
Molecular therapy : the journal of the American Society of Gene TherapyCombined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.
BiomedicinesCochlear Implantation in Children with Additional Disabilities: A Systematic Review.
Children (Basel, Switzerland)Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Molecular therapy : the journal of the American Society of Gene TherapyPrevalence of inherited retinal diseases in a large Egyptian cohort.
BMC ophthalmologyThe effects of ush2a gene knockout on vesicle transport in photoreceptors.
GeneCarriers of autosomal recessive conditions: are they really 'unaffected?'.
Journal of medical geneticsGene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.
International journal of molecular sciencesClinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report.
CureusAutosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature.
World journal of clinical casesExpression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.
Communications biologyDual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B.
Molecular therapy. Methods & clinical developmentMolecular regulatory mechanism of human myosin-7a.
The Journal of biological chemistryAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome Usher e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Atualmente, a Síndrome Usher não tem cura catalogada. O manejo concentra-se em cuidados de suporte sensorial e reabilitação, enquanto diversas pesquisas científicas estudam novas terapias em ensaios clínicos.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Síndrome Usher. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-usher
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome Usher
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
