An Introduction to the Ocular Mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a rare group of lysosomal storage disorders, each characterised by deficiency in a specific lysosomal enzyme responsible for glycosaminoglycan (GAG) degradation. Pathological accumulation of GAGs occurs in multiple organ systems, including the eye, leading to a broad range of clinical features. Despite MPS being uncommon overall, ocular involvement is relatively frequent within this group of disorders and can significantly compromise vision. This article provides a concise overview of the key ophthalmic manifestations of MPS, highlighting anterior and posterior segment changes, diagnosis and management considerations.