한국인에서 발생한 어셔증후군의 임상양상

The Clinical Manifestations of Usher Syndrome in Korea

Purpose: To obtain useful information for counseling patients with Usher syndrome by analyzing the characteristics of its ophthalmologic manifestations. Method: The records of eight patients were reviewed for visual acuity, refractive error, Goldmann perimetry, electroretinogram, and other abnormalities. Results: The best corrected visual acuity was 20/30 or better, bilaterally in six patients. All patients showed retinal findings characteristic of of retinitis pigmentosa. All seven patients who received Goldmann perimetry showed visual field defect. Furthermore, electroretinograms taken from seven patients were all extinguished. Six patients had myopic astigmatism, with one showing high myopia. Two patients showed exotropia. No correlation was found between the severity of the ophthalmologic problems and the level of the hearing loss or vestibular dysfunction. Conclusions: Visual acuity was relatively preserved in most patients. Usher syndrome can be accompanied by strabismus, myopia, and even high myopia.