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Ocular manifestations in the mucopolysaccharidoses – a review
Author(s) -
Ashworth Jane L,
Kruse Friedrich E,
Bachmann Björn,
Tormene Alma P,
Suppiej Agnese,
Parini Rossella,
Guffon Nathalie
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.1442-9071.2010.02364.x
Subject(s) - medicine , ophthalmology , glaucoma , mucopolysaccharidosis , optic nerve , atrophy , refractive error , dermatology , eye disease , pathology
A bstract Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the accumulation of glycosaminoglycans deposits in ocular tissues or secondary to increased intracranial pressure. Typical ocular features in MPS include corneal clouding, retinopathy, glaucoma, optic disc swelling, optic atrophy, and ocular motility and refractive error problems. This paper reviews the ocular features in patients with MPS, discusses the diagnosis of these ocular features and the diagnostic problems that may arise in patients (children) with MPS, and highlights the central role ophthalmologists may play in the diagnosis and follow‐up of these patients.