Retinal Phenotype in Mucopolysaccharidosis Type III.

Abstract excerpt

PURPOSE: Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a group of rare, hereditary, autosomal recessive, lysosomal storage disorders characterized by neurocognitive decline and early mortality. Pronounced visual impairment is frequent and retinal disease is more common in MPS III than in other MPS subtypes. The aim of this study was to characterize the retinal phenotype in MPS III and to...

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