February 2025

OPHTHALMOLOGY

CASE REPORT: POSTERIOR SEGMENT FINDINGS IN HUNTER SYNDROME

A case report co-authored by Manjot K. Gill, MD, describes a 32-year-old Hispanic man with mucopolysaccharidosis type II (MPS II, Hunter syndrome). The patient presented with difficulties in night vision and photophobia, prompting a referral for suspected retinitis pigmentosa. A clinical exam revealed bilateral symmetric pigmentary changes along the retinal arcades. Optical coherence tomography indicated a blunted foveal contour and thinning of the outer retinal layers around the fovea. Fundus autofluorescence displayed a central hyperautofluorescent ring and a symmetric bull's eye pattern of hypoautofluorescence.
Manjot K. Gill, MD, Professor of ​Ophthalmology at Northwestern Medicine

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