Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

Ryutaro Yamanishi; Natsuko Nakamura; Kazushige Tsunoda

doi:10.1159/000500804

Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

Case Rep Ophthalmol. 2019 Jun 6;10(2):186-194. doi: 10.1159/000500804. eCollection 2019 May-Aug.

Authors

Ryutaro Yamanishi^{1

2}, Natsuko Nakamura^{3

4}, Kazushige Tsunoda^{1

3}

Affiliations

¹ Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
² Department of Ophthalmology, Keio University, Tokyo, Japan.
³ Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁴ Department of Ophthalmology, The University of Tokyo, Tokyo, Japan.

Abstract

We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the retina and abnormalities of the optic nerve. After the ERT, there was an improvement of the visual acuity and visual fields and an improvement of the activities of daily living. Despite the late onset of Hunter syndrome in this patient, ERT was still able to improve the visual function. We conclude that ERT should be considered regardless of the age of the manifestations of the signs and symptoms of Hunter syndrome.

Keywords: Enzyme replacement therapy; Hunter syndrome; Idursulfase; Mucopolysaccharidosis type II; Recovery; Vision.

Publication types

Case Reports