PROGRESSIVE RETINOPATHY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS TYPE II UNDERGOING ENZYME REPLACEMENT THERAPY: A CASE REPORT.

PURPOSE: The aim of this study was 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).

METHODS

This was a case report with clinical photography.

RESULTS

The authors report the case of a 27-year-old male patient with mucopolysaccharidosis type II whom they followed from 2019 to 2023. Throughout the follow-up, the authors noticed a slow increase of parafoveal outer retinal atrophy centripetally, which is reflected in a smaller hyperautofluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.

CONCLUSION

Despite continuing long-term enzyme replacement treatment with idursulfase, the retinopathy associated with mucopolysaccharidosis type II progressed in the patient.