Scheie 증후군 환자의 안 소견 1예
Ocular Findings in a Patient with Scheie Syndrome
김민성, 조인환,
소속 상세정보
김민성 ( Kim Min-Seong )
Soonchunhyang University College of Medicine Soonchunhyang University Cheonan Hospital Department of Ophthalmology
조인환 ( Cho In-Hwan )
Soonchunhyang University College of Medicine Soonchunhyang University Cheonan Hospital Department of Ophthalmology
Abstract
Purpose: To report ocular findings in a patient with Scheie syndrome.
Case summary: A 28-year-old male who was diagnosed with Scheie syndrome ten years ago visited our ophthalmology clinic. The man was diagnosed with Scheie syndrome based on normal intelligence, a coarse face, cardiac valve problems, and reduced α-L-iduronidase, heparan sulfate and dermatan sulfate levels on urinalysis. An ophthalmic examination showed that the best-corrected visual acuities were 0.25 and 0.2, while the intraocular pressures were 11 and 12 mmHg, in the right and left eyes, respectively. An anterior segment examination was normal except for corneal clouding (grade II). Fundus examination revealed bony spicule pigmentation in the peripheral retina and vessel attenuation in both eyes. Parafoveal photoreceptor loss was revealed by optical coherence tomography. In addition, scotopic and photopic electroretinographic responses were decreased, and the visual field decreased in accordance with the photoreceptor cell loss.
Conclusions: Clinicians should consider a diagnosis of Scheie syndrome when examining a patient with characteristic ocular findings and general symptoms.
키워드
Corneal clouding; Mucopolysaccharidosis; Retinal degeneration; Scheie syndrome
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