0000000000451704
AUTHOR
C. Gail Summers
Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a review
The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.
The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…