Abstract
Background Ocular involvement occurs in Mucopolysaccharidosis Type II (MPS II; Hunter syndrome). We report findings from imaging and electrophysiology, including novel imaging findings from optical coherence tomography (OCT).
Methods A 22 year old male underwent detailed ocular phenotyping, including ultra-widefield pseudocolour and autofluorescence imaging, spectral domain OCT and electroretinogram (ERG) recording. He had been diagnosed with MPS II aged 5 and reported intermittent blurring of vision over the last 2 years.
Results Fundal examination showed discrete pale lesions extending vertically, above and below the optic disc. Autofluorescence revealed concentric hyperautofluorescent rings. OCT showed macular oedema and paracentral outer retinal loss. OCT over the pale lesions showed these were inward scleral protrusions or thickening. ERGs showed generalised rod more than cone system dysfunction with a negative waveform to the dark-adapted bright flash.
Conclusions Several findings are consistent with prior reports. Here, we were able to confirm, using OCT, that the pale lesions were scleral. The negative ERG waveform may reflect dark-adapted cone system responses.
