Audiological phenotype of siblings with dual sensory impairment caused by SLITRK6 mutation—case report
Abstract
Abstract Background Dual sensory impairment (DSI), defined as concomitant hearing and vision loss, is a rare but clinically significant condition. While genetic factors account for the majority of congenital sensory impairments, dual impairment syndromes are less frequently documented. Case presentation This case report presents two siblings diagnosed with autosomal recessive high myopia and sensorineural hearing loss due to a homozygous mutation in the SLITRK6 gene. Conclusion Our findings reinforce the essential role of the SLITRK6 gene in auditory and visual system development and highlight the importance of genetic evaluation in pediatric patients presenting with multi-sensory deficits.
Fields of Study & Subjects
Hearing
Cochlea
Tinnitus
Genetics
Retinal Development and Disorders
Ocular Disorders and Treatments
Publication details
- Journal / source
- The Egyptian Journal of Otolaryngology
- Publisher
- Springer Science and Business Media LLC
- Volume
- 42
- Issue
- 1
- Publication date
- 6 February 2026
- Language
- EN