Usher syndrome

Información en español Title

Other Names:

Deafness-retinitis pigmentosa syndrome; Dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome; Deafness-retinitis pigmentosa syndrome; Dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome; Hallgren syndrome; Usher's syndrome See More

Categories:

Eye diseases

Subtypes:

Usher syndrome type 2A; Usher syndrome type 3A; Usher syndrome, type 1; Usher syndrome type 2A; Usher syndrome type 3A; Usher syndrome, type 1; Usher syndrome, type 1B; Usher syndrome, type 1C; Usher syndrome, type 1D; Usher syndrome, type 1E; Usher syndrome, type 1F; Usher syndrome, type 2B; Usher syndrome, type 2C See More

Summary Summary

Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. Sensorineural hearing means it is caused by abnormalities of the inner ear. Retinitis pigmentosa is an eye disease that affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision, that can enlarge and merge to produce tunnel vision (loss of all peripheral vision). In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner.^[1] Treatment for the hearing loss may include hearing aids or surgery for a cochlear implant. Vitamin A palmitate is useful for treating the vision loss in people with Usher syndrome type II.^[2]

Last updated: 3/16/2017

Symptoms Symptoms

Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished mainly by their severity, and the age when signs and symptoms appear. These types are also further divided into subtypes.^[1]

Usher syndrome type I characterized by:

Severe hearing loss or deafness at birth or developing within the first year of life
Progressive visions loss, starting during infancy, caused by retinitis pigmentosa
Balance and equilibrium issues due to problems within the vestibular system (the sensory apparatus of the inner ear that helps the body maintain its postural equilibrium)
Motor delay, manifested by children sitting independently and walking later than usual.

Usher syndrome type II characterized by:

Hearing loss from birth, usually milder than type I and mainly affects high tones. Children with Usher syndrome type II have problems hearing high, soft, speech sounds such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition.
Progressive vision loss that begins in adolescence or adulthood.
Absence of any balance or equilibrium problems.

Usher syndrome type III characterized by:

Progressive hearing loss which begins during the first few decades of life. Therefore, unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf.
Progressive vision loss developing in late childhood or adolescence.
Variable balance issues, due to vestibular system problems.

For additional information about subypes please visit the OMIM phenotype series link: https://www.omim.org/phenotypicSeries/PS276900

Last updated: 3/16/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram		0000512
Abnormality of retinal pigmentation		0007703
Blindness		0000618
Nyctalopia	Night blindness Night-blindness Poor night vision [ more ]	0000662
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Sensorineural hearing impairment		0000407
Vestibular areflexia		0008568
Visual field defect	Partial loss of field of vision	0001123
30%-79% of people have these symptoms
Ataxia		0001251
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
5%-29% of people have these symptoms
Abnormal cardiovascular system physiology		0011025
Abnormality of dental color	Abnormality of tooth color Abnormality of tooth shade [ more ]	0011073
Abnormality of dental enamel	Abnormal tooth enamel Enamel abnormalities Enamel abnormality [ more ]	0000682
Anxiety	Excessive, persistent worry and fear	0000739
Aplasia/Hypoplasia of the cerebellum	Absent/small cerebellum Absent/underdeveloped cerebellum [ more ]	0007360
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Decreased fertility	Abnormal fertility	0000144
Depressivity	Depression	0000716
EMG abnormality		0003457
Hallucinations	Hallucination Sensory hallucination [ more ]	0000738
Hyperacusis		0010780
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Microdontia	Decreased width of tooth	0000691
Myopathy	Muscle tissue disease	0003198
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Psychosis		0000709
Tinnitus	Ringing in ears Ringing in the ears [ more ]	0000360

Showing of 32 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 6/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Usher syndrome is an inherited disorder with different subtypes caused by mutations in any of a number of genes:^[3]^[4]^[5]^[6]^[7]

Type I is divided in the following subtypes:

IB, caused by mutations in the MYO7A gene (the most common one)
IC, caused by mutations in the USH1C gene
ID, caused by mutations in the CDH23 gene
ID-F, caused by mutations in the PCDH15 and CDH23 genes
IF, caused by mutations in the PCDH15 gene
IG, caused by mutations in the SANS gene
IH, caused by mutations in the USH1H gene
IJ, caused by mutations in the CIB2 gene
IK, caused by mutations in the USH1K gene

Type II is divided in the following subtypes:

IIA, caused by mutations in the USH2A gene
IIC, caused by mutations in the ADGRV1 gene
IID, caused by mutations in the WHRN gene
IIC, GPR98/PDZD7, caused by mutations in the ADGRV1 (ADGRV1 is also known as GPR98) and PDZD7 genes

Type III is divided in the following subtypes:

IIIA, caused by mutations in the CLRN1 gene
IIIB, caused by mutations in the HARS gene

Please see the list of the different types and subtypes of Usher syndrome and their specific gene mutations provided by OMIM.

Many of the genes related to Usher syndrome give instructions to make proteins needed for normal hearing, balance, and vision. The signs and symptoms of Usher syndrome occur when these genes have mutations that impair how they function. In some cases, the exact role of the genes involved is unknown. In some cases no mutation is identified, and it is believed that other genes may be involved.^[1]

Last updated: 3/16/2017

Inheritance Inheritance

Usher syndrome is inherited in an autosomal recessive manner.^[1] This means that a person must have a disease-causing change (mutation) in both copies of the gene associated with the syndrome in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms.

When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier AND not be affected.

Last updated: 3/16/2017

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include oculo-acoustic syndromes associated with mitochondrial DNA mutations (MIDD, Kearns-Sayre syndrome), and, more rarely, Refsum disease and moderate forms of Alström syndrome (see these terms). Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Usher syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Usher syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Usher syndrome:
My Retina Tracker®
The Usher Syndrome Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 800-683-5555
Telephone: 410-423-0600 (local)
TTY: 800-683-5551
E-mail: info@fightblindness.org
Website: http://www.blindness.org
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: info@preventblindness.org
Website: http://www.preventblindness.org/
Retina International
Ausstellungsstr. 36
8005 Zurich
Switzerland
Telephone: + 41 (0)44 444 10 77
E-mail: info@retina-international.org
Website: http://www.retina-international.org
Usher Syndrome Coalition
63 Great Road
Suite 207
Maynard, MA 01754
Toll-free: 1-855-998-7437
E-mail: info@usher-syndrome.org
Website: http://www.usher-syndrome.org/
This group also offers videophone (VP) for individuals whose primary language is American Sign Language: 631-533-9621

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Usher syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The National Institutes of Health (NIH) has developed an information page on Usher syndrome. To view this information, click on the link above.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Usher syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Usher syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

How is Usher syndrome inherited? What is the gene for Usher syndrome? See answer
Since Usher syndrome is a ciliopathy, will my daughter who has it exhibit symptoms of other ciliopathies? She has many chronic health problems including irregular menstrual cycles, migraine headaches, and obesity. See answer

Have a question? Contact a GARD Information Specialist.

References References

Usher syndrome. Genetics Home Reference (GHR). 2016; http://ghr.nlm.nih.gov/condition/usher-syndrome.
Keats BJB & Lentz J. Usher Syndrome Type II. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK1341/.
Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. February 2012; 25(1):42-49.
Cassandra L. Kniffin. USHER SYNDROME, TYPE IJ; USH1J. OMIM. 2014; http://omim.org/entry/614869.
Cassandra L. Kniffin. USHER SYNDROME, TYPE IIC; USH2C. OMIM. 2016; http://omim.org/entry/605472.
Cassandra L. Kniffin. USHER SYNDROME, TYPE IG; USH1G. OMIM. 2014; http://omim.org/entry/606943.
Cassandra L. Kniffin. USHER SYNDROME, TYPE IID; USH2D. OMIM. 2014; http://omim.org/entry/611383.