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Article

Variability in the ocular phenotype in mucopolysaccharidosis.

The British journal of ophthalmology - 1 Apr 2019

Sornalingam Krishanthy, Javed Ahmed, Aslam Tariq, Sergouniotis Panagiotis, Jones Simon, Ghosh Arunabha, Ashworth Jane

Abstract excerpt

PURPOSE: Mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. Ocular complications (such as corneal clouding, retinopathy and optic neuropathy) are common. Notably, there is a paucity of data on the effect of genotype and systemic treatments (enzyme replacement therapy or haematopoietic stem cell transplantation) on the ocular phenotype in MPS. We prospectively studied the ocular...

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Identifiers

PMID: 30120129
DOI: 10.1136/bjophthalmol-2017-311749

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