Role of SD‐OCT in the follow‐up of a patient with macular edema associated with mucopoysaccharidosis type II (Hunter syndrome) undergoing idursulfase enzyme replacement therapy

Abstract

PurposePurpose: Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a variable, progressive, multisystem disorder including severe airway obstruction, cardiomyopathy, skeletal deformities and neurological problems. It is an X‐linked recessive disease caused by deficiency of the lysosomal enzyme iduronate‐2‐sulphatase, leading to accumulation of glycosaminoglycans. Several ophthalmological disorders, including corneal opacities, glaucoma and retinal degeneration, have been previously reported. This is the first case of bilateral macular edema associated with MPS II. The patient underwent idursulfase enzyme replacement therapy with good response. We point out the utility of spectral domain optical coherence tomography (SD‐OCT) in the diagnosis and follow‐up of this condition.MethodsSD‐OCT, fundus autofluorescence and retinography were used in the diagnosis and follow‐up of the visual disorder.ResultsMacular edema was successfully managed with idursulfase enzyme replacement therapy stabilizing visual loss. Central macular thickness measured by SD‐OCT decreased significantly.ConclusionIdursulfase enzyme replacement therapy seems to be a good treatment option for macular edema associated with MPS II. Furthermore, SD‐OCT played a key role in the diagnosis and follow‐up of this condition.