Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits.

ABSTRACT:

Introduction

Mucopolysaccharidosis type VI (MPS VI) is a rare inherited metabolic disorder, primarily attributed to the deficiency of the enzyme N-acetylgalactosamine-4-sulfatase, responsible for the degradation of dermatan sulfate and chondroitin-4-sulfate. Therefore, there is a widespread accumulation of partially degraded glycosaminoglycans. Corneal opacification is the hallmark ocular feature in the MPS. Retinal and scleral involvement in this MPS is extremely rare. The purpose of this work was to describe novel fundoscopic alterations present in patients with MPS VI.

Case presentation

This is a case series involving three non-related patients referred to our department from the Unit of Inherited Metabolic Diseases. Multimodal imaging was performed in every patient. Fund

SUBMITTER: Magalhaes A 

PROVIDER: S-EPMC11521405 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature