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Ocular manifestations in patients with mucopolysaccharidosis: what do we know and how can we treat?
Author(s) -
Ponzin Diego,
Ferrari Stefano,
Harmatz Paul,
Scarpa Maurizio
Publication year - 2010
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2010.02362.x
Subject(s) - medicine , mucopolysaccharidosis , enzyme replacement therapy , ophthalmology , glaucoma , mucopolysaccharidosis type i , optic nerve , mucopolysaccharidosis i , pathology , disease
The current paper provides an overview of current knowledge on the structure and function of the eye. It describes in depth the different parts of the eye that are involved in the ocular manifestations seen in the mucopolysaccharidoses (MPS). The MPS are a group of rare inheritable lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in cells and tissues all over the body, leading to widespread tissue and organ dysfunction. GAGs also tend to accumulate in several tissues of the eye, leading to various ocular manifestations affecting both the anterior (cornea, conjunctiva) and the posterior parts (retina, sclera, optic nerve) of the eye