high myopia-sensorineural deafness syndrome

High myopia-sensorineural deafness syndrome is a rare genetic condition that primarily affects the eyes and ears, leading to severe nearsightedness and bilateral sensorineural hearing loss. It is caused by pathogenic variants in the SLITRK6 gene, which plays a role in the development of auditory and visual systems. The condition presents from an early age with high myopia and progressive hearing impairment, and it is inherited in an autosomal recessive pattern. In terms of prevalence, this syndrome is very rare, affecting fewer than 1 in 1,000,000 people.

Individuals with high myopia-sensorineural deafness syndrome characteristically exhibit high myopia, with refractive errors ranging from -6.0 to -11.0 diopters, and bilateral, progressive sensorineural hearing loss that begins before speech develops. These are the core features and are consistently observed in affected individuals. There are no additional systemic, ocular, or connective tissue manifestations described, ensuring that the clinical picture is largely confined to sensory deficits. Not all individuals experience every nuance of the condition, and severity varies considerably.

This condition results from pathogenic variants in the SLITRK6 gene. The SLITRK6 protein is involved in the development and function of sensory organs, and disruptions in its normal activity lead to the visual and auditory abnormalities observed in affected individuals. Inheritance is autosomal recessive, meaning that an individual must inherit two copies of the altered gene—one from each parent—to manifest symptoms. It is more common when parents share a common ancestor, as this increases the likelihood that both carry the same rare genetic variant, and genetic counseling can provide guidance for family planning.

Currently, management of high myopia-sensorineural deafness syndrome focuses on supportive care and addressing specific symptoms. While there are no FDA-approved or foundational therapies linked directly to this condition, treatment is tailored to the individual and typically involves a multidisciplinary team. Options such as corrective lenses and appropriate hearing aids help manage the primary sensory challenges, and genetic counseling is recommended to support family planning. Patients should discuss treatment options with their healthcare team to determine the best approach for their specific situation.

The long-term outlook for individuals with high myopia-sensorineural deafness syndrome is variable, with the progression of high myopia and hearing loss differing among patients. With current standards of care, many individuals achieve improved quality of life despite the inherent challenges of visual and auditory impairment. Outcomes described in medical literature continue to evolve as standards of care improve, and regular follow-up with healthcare professionals is beneficial. Families often find it helpful to connect with specialists familiar with this condition, and genetic counseling is recommended to discuss potential implications for future family planning.

Clinical trials are underway exploring new treatment approaches for high myopia-sensorineural deafness syndrome. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.