Deafness and myopia syndrome

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Reviewed November 2015

What is deafness and myopia syndrome?

Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual).

Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.

How common is deafness and myopia syndrome?

The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature.

What genes are related to deafness and myopia syndrome?

Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function.

SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.

How do people inherit deafness and myopia syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of deafness and myopia syndrome?

These resources address the diagnosis or management of deafness and myopia syndrome and may include treatment providers.

You might also find information on the diagnosis or management of deafness and myopia syndrome in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about deafness and myopia syndrome?

You may find the following resources about deafness and myopia syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information (6 links)
Additional NIH Resources - National Institutes of Health (2 links)
Educational resources - Information pages (9 links)
Patient support - For patients and families (5 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary
PubMed - Recent literature
OMIM - Genetic disorder catalog

What other names do people use for deafness and myopia syndrome?

deafness and myopia
deafness, cochlear, plus
DFNMYP
high myopia and sensorineural deafness
high myopia-sensorineural deafness syndrome
myopia and deafness

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about deafness and myopia syndrome?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding deafness and myopia syndrome?

auditory ; autosomal ; autosomal recessive ; cell ; cell membrane ; congenital ; gene ; inherited ;myopia ; nearsightedness ; neuropathy ; prelingual ; prevalence ; protein ; recessive ; sensorineural ;syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook