Progressive retinopathy in a patient with mucopolysaccharidosis Type II undergoing enzyme replacement

Wouters Margot, Michel Van Lint

Research output: Contribution to journalArticlepeer-review

Abstract

DOI: 10.1097/ICB.0000000000001537

Purpose: 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: Case report with clinical photography.

Results: 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.
Original languageEnglish
JournalRetinal cases & brief reports
Early online date23 Dec 2023
Publication statusE-pub ahead of print - 23 Dec 2023

Keywords

  • mucopolysaccharidosis type II
  • Hunter syndrome

Fingerprint

Dive into the research topics of 'Progressive retinopathy in a patient with mucopolysaccharidosis Type II undergoing enzyme replacement'. Together they form a unique fingerprint.

Cite this