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

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 Fo...

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Autores principales:	Fenzl CR, Teramoto K, Moshirfar M
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2015
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/fd184b43007e4f5085aa8eac58a11311
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spelling	oai:doaj.org-article:fd184b43007e4f5085aa8eac58a113112021-12-02T00:56:41ZOcular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses1177-5483https://doaj.org/article/fd184b43007e4f5085aa8eac58a113112015-09-01T00:00:00Zhttps://www.dovepress.com/ocular-manifestations-and-management-recommendations-of-lysosomal-stor-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Carlton 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 cloudingFenzl CRTeramoto KMoshirfar MDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2015, Iss default, Pp 1633-1644 (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Fenzl CR Teramoto K Moshirfar M Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
description	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
format	article
author	Fenzl CR Teramoto K Moshirfar M
author_facet	Fenzl CR Teramoto K Moshirfar M
author_sort	Fenzl CR
title	Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
title_short	Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
title_full	Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
title_fullStr	Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
title_full_unstemmed	Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses
title_sort	ocular manifestations and management recommendations of lysosomal storage disorders i: mucopolysaccharidoses
publisher	Dove Medical Press
publishDate	2015
url	https://doaj.org/article/fd184b43007e4f5085aa8eac58a11311
work_keys_str_mv	AT fenzlcr ocularmanifestationsandmanagementrecommendationsoflysosomalstoragedisordersnbspimucopolysaccharidoses AT teramotok ocularmanifestationsandmanagementrecommendationsoflysosomalstoragedisordersnbspimucopolysaccharidoses AT moshirfarm ocularmanifestationsandmanagementrecommendationsoflysosomalstoragedisordersnbspimucopolysaccharidoses
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Ocular manifestations and management recommendations of lysosomal storage disorders&nbsp;I: mucopolysaccharidoses

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