Progressive Retinopathy in a Patient with Mucopolysaccharidosis Type II undergoing Enzyme Replacement Therapy: A Case Report.

Abstract

To report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT). Case report with clinical photography. We report the case of a 27-year old male patient with mucopolysaccharidosis type II whom we followed from 2019-2023. Throughout follow-up we noticed a slow increase of parafoveal outer retinal atrophy centripetally which is reflected in a smaller hyper-auto-fluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.Discussion/Conclusion: Despite continuing long-term enzyme replacement treatment with idursulfase the retinopathy associated with mucopolysaccharidosis type II progressed in our patient.