Ophthalmic Manifestations of Patients With Mucopolysaccharidosis

  • End date
    Apr 1, 2023
  • participants needed
  • sponsor
    Shrouk Shaban Bakr
Updated on 6 March 2021


Mucopolysaccharidosis (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycan(1,2). They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler)(3) , MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II(4,5) (Hunter), MPS III (Sanfilippo)(6) , MPS IV (Morquio)(7,8), MPS VI (Maroteaux-Lamy)(9), MPS VII (Sly)(10,11) and MPS IX (Natowicz)(12). Mucopolysaccharidosis have a spectrum of systemic manifestations, including airway and respiratory compromise, skeletal deformities, intellectual and neurological impairment, cardiac abnormalities, gastrointestinal problems and ocular manifestations(13). Ocular manifestation are common in the mucopolysaccharidosis and may result in significant visual impairment(14). Corneal opacification of varying severity is frequently seen, as well as retinopathy, optic nerve swelling and atrophy, ocular hypertension, and glaucoma(14). New treatment modalities for the systemic manifestations of the mucopolysaccharidosis include bone marrow transplant and enzyme replacement therapy have resulted in an improved prognosis in many cases(15).

Condition Ophthalmic Manifestations
Clinical Study IdentifierNCT04770415
SponsorShrouk Shaban Bakr
Last Modified on6 March 2021


Yes No Not Sure

Inclusion Criteria

All patients at any age up to 18 years with any type of MPS confirmed by the enzymatic assay

Exclusion Criteria

Any patient other than MPS
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