National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Deafness and myopia syndrome


Other Names:
High myopia-sensorineural deafness syndrome
Categories:
Deafness and myopia syndrome is rare condition that affects both hearing and vision. Beginning at birth or in early infancy, people with this condition have moderate to profound hearing loss in both ears that generally becomes worse over time. Affected people also develop severe myopia (nearsightedness) later in infancy or early childhood. Deafness and myopia syndrome is caused by changes (mutations) in the SLITRK6 gene and is inherited in an autosomal recessive manner. Treatment aims to improve hearing loss and correct myopia. Cochlear implantation may be an option for some affected people.[1][2]
Last updated: 12/1/2015

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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Hematuria
Blood in urine
0000790
High myopia
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] 		0011003
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Profound hearing impairment 0012715
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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 Deafness and myopia syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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) 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 Deafness and myopia syndrome. Click on the link to view a sample search on this topic.

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.

  1. Deafness and myopia syndrome. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome.
  2. Jessica Ordonez, MS, CGC and Mustafa Tekin, MD. Deafness and Myopia Syndrome. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK269029/#dfn-myop.Clinical_Description.