Epiretinal membranes in a patient with Scheie's syndrome diagnosed using a high-resolution SD-OCT

Purpose To report a case of a young woman with Mucopolysaccharidosis I-S (Scheie's Syndrome) having bilateral epiretinal membranes (ERMs) which have been confirmed by the use of a high resolution spectral-domain optical coherence tomography (Spectralis SD-OCT). Methods A 28 year-old female, diagnosed with Scheie's Syndrome since 8 years old, was examined in our department. For the last 6 years she has been receiving weekly intravenous laronidase. In manifest refraction the patient achieved a visual acuity of 20/40 OD and 20/32 OS with a high hyperopic spherical equivalent correction (+7.50D, OU). Slit-lamp anterior segment examination showed the presence of diffuse corneal haze in both eyes which obscured retinal view. During dilated fundus examination she complained of severe photophobia. An OCT examination using the Spectralis SD-OCT (Heidelberg Engineering, Germany) was performed to evaluate the retinal pathology. Results The SD-OCT examination revealed the presence of epiretinal membranes in both eyes without any signs of macular edema. Conclusion In patients with mucopolysacharidosis I the view of retinal abnormalities with the use of a slit-lamp biomicroscope could be difficult due to corneal haze and severe photophobia. SD-OCT examination is an alternative method to investigate the presence of epiretinal membranes or other retinal pathology in such cases.