Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses

Abstract

Carlton R Fenzl,1 Kyla Teramoto,2 Majid Moshirfar3 1John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA; 2John A Burns School of Medicine, University of Hawai’i, Honolulu, HI, USA; 3Cornea and Refractive Surgery Division, Department of Ophthalmology, Francis I. Proctor Foundation, University of California, San Francisco, CA, USA Abstract: The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan (GAG) metabolism. These diseases are classified by enzyme deficiency into seven groups: type I, II, III, IV, VI, VII, and IX. GAG accumulation leads to characteristic clinical features. Some ophthalmic findings that are characteristic of MPS diseases include corneal clouding, retinal degeneration, decreased electroretinogram wave amplitude, optic atrophy, papilledema, and glaucoma. Current treatments such as hematopoietic stem cell transplantation and enzyme replacement therapy have increased the life span of many MPS patients and created the need to improve management of ocular symptoms. This article aims to provide a comprehensive review of ocular manifestations and treatment options for the various types of MPS. Keywords: MPS, glycosaminoglycan, corneal clouding