1. OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1

    OCT imaging of macular cysts and treatment response with nepafenac in mucopolysaccharidosis type 1

    Purpose Mucopolysaccharidosis Type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by a defect in the enzyme alpha-L-iduronidase. Glycosaminoglycan accumulation causes ocular involvement such as corneal clouding or pigmentary retinopathy. Here we report bilateral macular cysts in mucopolysaccharidosis type I (MPS I) that responds to nepafenac treatment. Methods Retrospective case report. Results A 27-year-old woman with MPS I (Scheie phenotype) was complaining of slightly blurred vision. She had been on alpha-L-iduronidase enzyme replacement therapy for ten years. Best-corrected visual acuity was 20/25 in both eyes. Biomicroscopy was normal. Dilated fundus examination revealed pigmentary retinopathy. Optical coherence ...

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