Last updated:
07/17/2025
Years published: 2025
NORD gratefully acknowledges Evie Li and Brooke Friedman, NORD Editorial Interns at the University of California, Los Angeles and the Icahn School of Medicine at Mount Sinai (respectively) and Mustafa Tekin, MD, Chair, Dr. John T. Macdonald Foundation Department of Human Genetics; Professor, Department of Otolaryngology and Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, for the preparation of this report.
Summary
High myopia-sensorineural deafness syndrome is a rare genetic condition characterized by severe nearsightedness (myopia) in late infancy or early childhood and moderate to profound hearing loss that occurs in early infancy (prelingual-onset) in both ears and worsens over time.1 This syndrome is caused by changes (variants) in the SLITRK6 gene and it is inherited in an autosomal recessive pattern.2 Except for severe nearsightedness (high myopia) and hearing loss, affected individuals do not have other symptoms.3 Treatments include technology such as hearing aids and enrollment in programs for hearing and visually impaired individuals.
People with high myopia-sensorineural deafness syndrome may have the following signs and symptoms:1,3
There are no signs of nervous system issues, problems with the body’s connective tissues (like joints or skin), or other eye problems besides nearsightedness.
High myopia-sensorineural deafness syndrome is caused by changes (variants) in the SLITRK6 gene.2 The SLITRK6 gene affects sensory neurons in the inner ear, vestibular system (responsible for orientation and balance) and ocular (eye) area.2 Variants in SLITRK6 produce a disrupted SLITRK6 protein that is unable to anchor properly to the neuronal cell membrane.4 This negatively impacts the structure and function of neural synapses, leading to abnormal development of inner ear nerves and eyeball growth and results in hearing loss and nearsightedness.5
Inheritance
High myopia-sensorineural deafness syndrome follows autosomal recessive inheritance. Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
The frequency of high myopia-sensorineural deafness syndrome is unknown and medical literature is only available on a few affected families.2 This disorder has been reported in the Amish population of Lancaster County, Pennsylvania,6 a Moroccan family from Temara city,7 a Turkish family4 and a Greek family.4
High myopia-sensorineural deafness syndrome may be suspected in a person with moderate-to-profound sensorineural hearing loss in both ears or a history of sensorineural hearing loss that has been attributed to abnormalities in the inner ear or auditory nerve (auditory neuropathy spectrum disorder).3 Patients may also present with severe nearsightedness. Affected people have normal facial appearance and bone structure and no other neurological, connective tissue, or ocular abnormalities.3
Diagnosis of this disorder is only confirmed through molecular genetic testing that identifies disease-causing (pathogenic) variants in SLITRK6 gene.3 It is possible to test for variants in the SLITRK6 gene in family members for early diagnosis.
High myopia-sensorineural deafness syndrome can be managed with the help of hearing devices such as hearing aids. Cochlear implants may also be considered, as they significantly improve speech perception, speech intelligibility, language and quality of life scores.12 Individuals can participate in intervention programs for the hearing impaired early after diagnosis to make the progressive symptoms easier to manage. To address the high myopia, families should meet with an ophthalmologist to determine recommended care.3
The American Association for Pediatric Ophthalmology and Strabismus has information about the treatment for high myopia.
Clinical evaluations for hearing and vision should be considered for relatives, particularly siblings.3
Gene therapy offers strong potential to treat genetic forms of hearing loss. Success depends on identifying the specific gene variant and treating it early, potentially even before birth. Gene therapy research for hearing loss is pushing forward.13,14
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
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