Objective: To report a successful stapedectomy for stapedial fixation in a patient with Stickler syndrome type I (COL2A1).
Setting: University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics.
Study design: A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological and genetical aspects.
Intervention: A stapedectomy was performed successfully.
Results: Hearing impairment improved after stapedectomy. Postoperatively a shift in high-frequency threshold wa seen related to the stapedectomy. A new mutation in COL2A1 gene was dectected.
Conclusion: Stapedial fixation can be the cause of hearing impairment in Stickler syndrome type I (COL2A1). The hearing impairment can be improved by stapes surgery.