Mucopolysaccharidosis type II B complicated by optic disc swelling, pigmentary retinopathy and macular edema.

Autor:	Olivieri C; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Ricardi F; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Coletto A; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Marica V; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Serafino S; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Marolo P; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Reibaldi M; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy., Borrelli E; Department of Surgical Sciences, University of Turin, Turin, Italy.; Department of Ophthalmology, 'City of Health and Science' Hospital, Turin, Italy.
Jazyk:	angličtina
Zdroj:	European journal of ophthalmology [Eur J Ophthalmol] 2024 Sep; Vol. 34 (5), pp. NP72-NP77. Date of Electronic Publication: 2024 May 27.
DOI:	10.1177/11206721241257967
Abstrakt:	Purpose: To report clinical and imaging features of optic nerve and retinal involvement in a patient with mucopolysaccharidosis (MPS) type II B. Methods: A 27-year-old man, diagnosed with MPS type II B and undergoing enzymatic substitution therapy for the past 19 years, was referred to the retina service. An ophthalmological evaluation, which included multimodal imaging, was conducted to investigate potential retinal and optic disc involvement. Results: The eye examination revealed a pigmentary retinopathy with a predominant loss of the outer retinal loss, primarily in the parafoveal and perifoveal regions. Notably, multimodal imaging identified macular edema without any signs of leakage, implying an association between macular edema and retinal neurodegeneration. Additionally, both eyes exhibited an optic disc with blurred margins. Conclusion: We herein describe the multimodal imaging findings of retinal and optic disc involvement in a patient with MPS type II B. This report describes for the first-time the presence of macular edema without leakage alongside photoreceptor damage and optic disc swelling. Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
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