Abstract
Case Report and Case Series. PURPOSE: To report a case of retinopathy in a 32-year-old man with Mucopolysaccharidosis type II (MPS II, Hunter syndrome) and highlight the unique multimodal imaging findings that can aid in diagnosing this rare condition. OBSERVATIONS: We present a case of a 32-year-old Hispanic male who presented to the retina clinic following referral from optometry to evaluate for retinitis pigmentosa. He complained of difficulty driving at night and photophobia for 3 years. Visual acuity was 20/25 without correction in the right eye and 20/50 with pinhole correction in the left eye. Fundus examination was notable for bilateral fairly symmetric pigmentary changes along the retinal arcades. OCT revealed blunted foveal contour, perifoveal outer retinal thinning with central sparing in both eyes, and thickening of the external limiting membrane. Fundus autofluorescence showed a central parafoveal hyperautofluorescent ring and diffuse granular hypoautofluorescence in a symmetric bull's eye pattern. CONCLUSIONS AND IMPORTANCE: The multimodal imaging findings from this case of a 32-year-old male with ocular manifestations of MPS II are characteristic of this rare condition. Recognizing these findings may aid in the diagnosis and subsequent management of patients with MPS II.