Ocular Findings in a Patient with Scheie Syndrome

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 alpha-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.