Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).


Total: 1

                      


(per page)
PMID (PMCID)
16754210
MALE
Hunter syndrome (MPS II-B): a report of bilateral vitreous floaters and maculopathy.
Anawis MA.
Ophthalmic Genet. 2006;27(2):71-2.
Screening for vitreous abnormalities and maculopathy may be important in diagnosing, treating, and explaining visual loss in Hunter syndrome.