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Usher syndrome
ICD-10 Codes
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Description
Usher Syndrome Description
Usher syndrome is an inherited disorder that causes vision loss, hearing loss, and sometimes balance issues [1]. It is the most common genetic cause of combined deafness and blindness, affecting more than 400,000 people worldwide [7].
The major symptoms of Usher syndrome are:
- Hearing loss, which can range from mild to complete
- Vision loss due to an eye disorder called retinitis pigmentosa (RP)
- Balance issues may also be affected
Usher syndrome is a genetic condition that worsens over time, with vision and hearing loss progressing gradually [4]. It is characterized by progressive vision and hearing loss, making it essential for individuals with the condition to receive proper treatment and management [9].
Key Points:
- Inherited disorder causing vision loss, hearing loss, and balance issues
- Most common genetic cause of combined deafness and blindness
- Hearing loss can range from mild to complete
- Vision loss due to retinitis pigmentosa (RP)
- Balance issues may also be affected
References:
[1] Usher syndrome is an inherited disorder that causes vision loss, hearing loss and, sometimes, balance issues. There's no cure, but treatment can help manage ...
[4] Oct 1, 2024 — The major symptoms of Usher syndrome are hearing loss and vision loss from an eye disorder called retinitis pigmentosa, or RP. Vision loss from ...
[7] Usher syndrome is the most common genetic cause of combined deafness and blindness. More than 400000 people are affected by this genetic disorder worldwide.
[9] Usher syndrome is an inherited condition characterized by progressive vision and hearing loss. Balance may also be affected. Symptoms and disease progression ...
Additional Characteristics
- Hearing loss, which can range from mild to complete
- Vision loss due to an eye disorder called retinitis pigmentosa (RP)
- Balance issues may also be affected
Signs and Symptoms
Common Signs and Symptoms of Usher Syndrome
Usher syndrome is a rare inherited disorder that affects both hearing and vision, with some cases also impacting balance. The symptoms can vary depending on the type of Usher syndrome, but common signs include:
- Hearing Loss: Hearing impairment or deafness is one of the major symptoms of Usher syndrome [1][2].
- Vision Impairment: Vision loss leading to blindness is another key symptom, caused by retinitis pigmentosa in some cases [3][6].
- Balance Issues: Some individuals with Usher syndrome may experience balance problems [1].
Additionally, other symptoms may include:
- Night Blindness: Difficulty seeing in low light conditions
- Glare Sensitivity: Increased sensitivity to glare or bright lights
- Needs Contrast: Needing higher contrast between objects and their surroundings to see them clearly
- Restricted Visual Field: A reduced field of vision
- Problems with Acuity: Difficulty with visual acuity, which is the sharpness of vision
It's essential to note that symptoms can vary in severity and progression depending on the individual and the specific type of Usher syndrome [4][8].
References: [1] Mar 16, 2017 - Usher syndrome is the most common condition that affects both hearing and vision; sometimes it also affects balance. [2] May 17, 2021 - Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. [3] Oct 1, 2024 - Usher syndrome is the most common genetic condition that affects both vision and hearing. The major symptoms of Usher syndrome are hearing loss and vision loss. [4] Symptoms depend on the type of Usher syndrome. But they often include problems with hearing or deafness, balance, and eyesight or blindness. There are several ... [5] What are Some Symptoms of Usher Syndrome? · Hearing Loss · Night Blindness · Glare Sensitivity · Needs Contrast · Restricted Visual Field · Problems with Acuity. [6] Symptoms of Usher syndrome · hearing impairment and deafness · vision impairment leading to blindness – in Usher syndrome this is caused by retinitis pigmentosa ( ... [7] Oct 1, 2024 - Usher syndrome is the most common genetic condition that affects both vision and hearing. The major symptoms of Usher syndrome are hearing loss and vision loss. [8] Symptoms depend on the type of Usher syndrome. But they often include problems with hearing or deafness, balance, and eyesight or blindness. There are several ...
Additional Symptoms
- Hearing Loss
- Night Blindness
- Vision Impairment
- Balance Issues
- Glare Sensitivity
- Needs Contrast
- Restricted Visual Field
- Problems with Acuity
Diagnostic Tests
Diagnostic Tests for Usher Syndrome
Usher syndrome, a rare inherited disorder, can be diagnosed through various tests that assess hearing, vision, and balance. Here are the diagnostic tests used to confirm a diagnosis of Usher syndrome:
- Hearing Tests: These tests evaluate the extent of hearing loss in individuals with Usher syndrome.
- Eye Tests: Specifically designed to check for retinitis pigmentosa, these tests help diagnose the visual aspect of Usher syndrome.
- Balance Tests: Assessing balance and coordination can also be part of the diagnostic process.
Genetic Testing
While not a direct test, genetic testing is crucial in confirming a diagnosis of Usher syndrome. It involves analyzing genes associated with the condition to determine if an individual has inherited mutations that cause the disorder.
Additional Diagnostic Tools
Other tests may be used to support a diagnosis of Usher syndrome, including:
- Visual Field Test: Measures peripheral (side) vision.
- Electroretinogram (ERG): Evaluates the response of the retina to light.
- Electronystagmography (ENG): Assesses balance and eye movement.
These diagnostic tests help healthcare providers confirm a diagnosis of Usher syndrome, enabling them to develop an effective treatment plan for affected individuals.
Additional Diagnostic Tests
- Genetic Testing
- Hearing Tests
- Eye Tests
- Balance Tests
- Visual Field Test
- Electroretinogram (ERG)
- Electronystagmography (ENG)
Treatment
Current Status of Drug-Based Therapies for Usher Syndrome
Usher syndrome, a genetic disorder affecting hearing and vision, has no approved therapies to prevent vision loss or restore vision. However, researchers are exploring various drug-based treatments to address this condition.
- Aminoglycosides: Recent studies have shown promising effects of aminoglycosides in cell cultures, which may someday be used as a treatment for Usher syndrome [1].
- BF844: A Phase I clinical trial has been launched in Perth, Australia, to evaluate the safety and tolerability of BF844, an emerging oral drug, for the treatment of Usher syndrome [2].
- Gene Therapy: Recent clinical trials are studying a new type of gene therapy that targets one of the most common mutations causing Usher syndrome (USH2A) [5].
Other Investigational Therapies
Several classes of treatments for Usher syndrome are being investigated, including nonsense-mediated therapies. Initial studies focused on nb30, a synthetic compound, but results were inconclusive [3]. Researchers continue to explore alternative approaches.
- N-acetylcysteine (NAC): A Phase 3 clinical trial has been launched by Johns Hopkins University to evaluate the efficacy of NAC for treating retinitis pigmentosa (RP), a related condition [8].
Support and Management
While there is no cure for Usher syndrome, medical treatments and support services can help individuals with this condition make the most of their abilities. These may include adjustment and career counseling, assistive devices, orientation and mobility training, or communication services [9].
References:
[1] Aminoglycosides Have Promise as Usher Treatment | Drug-Based Therapy News [2] Oct 11, 2024 — A Phase I clinical trial has been launched in Perth, Australia, to evaluate the safety and tolerability of an emerging oral drug known as BF844 for the treatment of Usher syndrome. [3] by LS French · 2020 · Cited by 28 — Several studies have investigated nonsense-mediated therapies for the treatment of Usher syndrome. Initial studies focussed on nb30, a synthetic compound... [5] Nov 15, 2023 — Recent clinical trials are studying a new type of gene therapy that targets one of the most common mutations that cause Usher syndrome (USH2A). [8] Oct 7, 2024 — Johns Hopkins University (JHU) has launched a Phase 3 clinical trial of N-acetylcysteine (NAC) for the treatment of retinitis pigmentosa (RP).
Recommended Medications
- Gene Therapy
- Aminoglycosides
- BF844
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Usher Syndrome
Usher syndrome, a genetic disorder characterized by sensorineural hearing loss and later development of retinitis pigmentosa, leading to visual impairment [8], requires a comprehensive approach for differential diagnosis. This involves considering
Additional Differential Diagnoses
- retinitis pigmentosa
- sensorineural hearing loss
- Alstrom syndrome
- peroxisomal acyl-CoA oxidase deficiency
- PHARC syndrome
- autosomal recessive nonsyndromic deafness 106
- Heimler syndrome 1
- Heimler syndrome 2
- retinitis pigmentosa 26
- retinitis pigmentosa 7
- retinitis pigmentosa 17
- retinitis pigmentosa 11
- retinitis pigmentosa 6
- retinitis pigmentosa 34
- autosomal recessive nonsyndromic deafness 40
- autosomal recessive nonsyndromic deafness 6
- autosomal recessive nonsyndromic deafness 7
- autosomal dominant nonsyndromic deafness 5
- autosomal dominant nonsyndromic deafness 56
- Usher syndrome type 1H
- Waardenburg syndrome type 1
- Waardenburg syndrome type 3
- Waardenburg syndrome type 2C
- Waardenburg syndrome type 4B
- Waardenburg syndrome type 4C
- autosomal recessive nonsyndromic deafness 115
- Keipert syndrome
- autosomal dominant nonsyndromic deafness 76
- Waardenburg syndrome
- obsolete nerve deafness
Additional Information
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- A syndrome characterized by a combination of hearing loss and visual impairment.
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- IDO_0000664
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- https://w3id.org/def/predibionto#has_symptom_488
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- t332296
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