# Síndrome Usher

> Página oficial: https://raras.org/doenca/sindrome-usher
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 886 — https://www.orpha.net/en/disease/detail/886
- **CID-10**: H35.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O síndrome de Usher (US) é caracterizado pela associação de surdez neurossensorial (normalmente congénita) com retinite pigmentosa e perda progressiva da visão.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (73 fenótipos HPO)

- **Anormalidade do sono** — HPO: HP:0002360
- **Deficiência auditiva neurossensorial progressiva** — HPO: HP:0000408
- **Eletrorretinograma indetectável** — HPO: HP:0000550
- **Atrofia retiniana** — HPO: HP:0001105
- **Escotoma em anel** — HPO: HP:0030529
- **Degeneração retiniana** — HPO: HP:0000546
- **Lesão macular hiperautofluorescente** — HPO: HP:0030631
- **Pigmentação em espícula óssea da retina** — HPO: HP:0007737
- **Arreflexia** — HPO: HP:0001284
- **Marcha em tandem prejudicada** — HPO: HP:0031629
- **Hipoplasia do osso nasal** — HPO: HP:0004646
- **Deficiência auditiva** — HPO: HP:0000365
- **Deficiência auditiva neurossensorial congênita** — HPO: HP:0008527
- **Função vestibular ausente** — HPO: HP:0008555
- **Reflexo patelar hiperativo** — HPO: HP:0007083
- **Nistagmo horizontal** — HPO: HP:0000666
- **Ataxia troncular** — HPO: HP:0002078
- **Maculopatia em olho de boi** — HPO: HP:0011504
- **Palidez do disco óptico** — HPO: HP:0000543
- **Atenuação dos vasos sanguíneos da retina** — HPO: HP:0007843
- **Fotofobia** — HPO: HP:0000613
- **Constrição do campo visual periférico** — HPO: HP:0001133
- **Escotoma** — HPO: HP:0000575
- **Atrofia cortical cerebral** — HPO: HP:0002120 (Ocasional (29-5%))
- **Anormalidade da fisiologia do sistema cardiovascular** — HPO: HP:0011025 (Ocasional (29-5%))
- **Ansiedade** — HPO: HP:0000739 (Ocasional (29-5%))
- **Cardiomiopatia hipertrófica** — HPO: HP:0001639 (Ocasional (29-5%))
- **Anormalidade no EMG** — HPO: HP:0003457 (Ocasional (29-5%))
- **Dentes cariados** — HPO: HP:0000670 (Ocasional (29-5%))
- **Hipermetropia alta** — HPO: HP:0008499 (Frequente (79-30%))
- **Miopatia** — HPO: HP:0003198 (Ocasional (29-5%))
- **Perda visual progressiva** — HPO: HP:0000529 (Muito frequente (99-80%))
- **Areflexia vestibular** — HPO: HP:0008568 (Muito frequente (99-80%))
- **Catarata** — HPO: HP:0000518 (Frequente (79-30%))
- **Anormalidade da cor dentária** — HPO: HP:0011073 (Ocasional (29-5%))
- **Hiperacusia** — HPO: HP:0010780 (Ocasional (29-5%))
- **Anormalidade do esmalte dentário** — HPO: HP:0000682 (Ocasional (29-5%))
- **Incoordenação motora** — HPO: HP:0002312 (Ocasional (29-5%))
- **Nistagmo** — HPO: HP:0000639 (Ocasional (29-5%))
- **Zumbido** — HPO: HP:0000360 (Ocasional (29-5%))
- _...e mais 33 sintomas. Ver https://raras.org/doenca/sindrome-usher._

## Genes associados (16)

- **HARS1** — Histidine--tRNA ligase, cytoplasmic [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance
- **ESPN** — Espin [Candidate gene tested in]
  - Função: Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and
- **MT-TS2** [Candidate gene tested in]
- **CIB2** — Calcium and integrin-binding family member 2 [Candidate gene tested in]
  - Função: Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel i
- **CEP78** — Centrosomal protein of 78 kDa [Candidate gene tested in]
  - Função: Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome dup
- **CLRN1** — Clarin-1 [Disease-causing germline mutation(s) in]
  - Função: May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina
- **ADGRV1** — Adhesion G-protein coupled receptor V1 [Disease-causing germline mutation(s) in]
  - Função: G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, G
- **USH1C** — Harmonin [Disease-causing germline mutation(s) in]
  - Função: Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development
- **MYO7A** — Unconventional myosin-VIIa [Disease-causing germline mutation(s) in]
  - Função: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then move
- **PDZD7** — PDZ domain-containing protein 7 [Disease-causing germline mutation(s) in]
  - Função: In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1
- **USH1G** — pre-mRNA splicing regulator USH1G [Disease-causing germline mutation(s) in]
  - Função: Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speck
- **CDH23** — Cadherin-23 [Disease-causing germline mutation(s) in]
  - Função: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining t
- **USH2A** — Usherin [Disease-causing germline mutation(s) in]
  - Função: Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochle
- **PCDH15** — Protocadherin-15 [Disease-causing germline mutation(s) in]
  - Função: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function
- **WHRN** — Whirlin [Disease-causing germline mutation(s) in]
  - Função: Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the

## Ensaios clínicos ativos (13)

- **NCT06789445** [RECRUITING]: A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) — https://clinicaltrials.gov/study/NCT06789445
- **NCT06627179** [RECRUITING]: Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene — https://clinicaltrials.gov/study/NCT06627179
- **NCT07278843** [RECRUITING]: Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A — https://clinicaltrials.gov/study/NCT07278843
- **NCT06591793** [RECRUITING]: Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa — https://clinicaltrials.gov/study/NCT06591793
- **NCT05355415** [RECRUITING]: Adaptive Optics Imaging of Outer Retinal Diseases — https://clinicaltrials.gov/study/NCT05355415
- **NCT02435940** [RECRUITING]: Inherited Retinal Degenerative Disease Registry — https://clinicaltrials.gov/study/NCT02435940
- **NCT04665726** [RECRUITING]: Natural History Study of Usher Syndrome ( Light4Deaf ) — https://clinicaltrials.gov/study/NCT04665726
- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT03146078** [ACTIVE_NOT_RECRUITING]: Rate of Progression in USH2A-related Retinal Degeneration — https://clinicaltrials.gov/study/NCT03146078
- **NCT02065011** [ACTIVE_NOT_RECRUITING]: A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B — https://clinicaltrials.gov/study/NCT02065011

## Doenças relacionadas (por similaridade fenotípica)

- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 29 sintomas em comum
- [Distrofia dos cones e bastonetes](https://raras.org/doenca/distrofia-dos-cones-e-bastonetes) — ORPHA:1872 — 26 sintomas em comum
- [Amaurose congênita de Leber](https://raras.org/doenca/amaurose-congenita-de-leber) — ORPHA:65 — 26 sintomas em comum
- [Síndrome de Usher tipo 1](https://raras.org/doenca/sindrome-de-usher-tipo-1) — ORPHA:231169 — 26 sintomas em comum
- [Síndrome de Usher tipo 3](https://raras.org/doenca/sindrome-de-usher-tipo-3) — ORPHA:231183 — 24 sintomas em comum
- [Síndrome de Usher tipo 2](https://raras.org/doenca/sindrome-de-usher-tipo-2) — ORPHA:231178 — 23 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 23 sintomas em comum
- [Neuropatia óptica autossômica dominante](https://raras.org/doenca/neuropatia-optica-autossomica-dominante) — ORPHA:98672 — 21 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 20 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 19 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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