Mucopolysaccharidosis
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associat...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Taiwan Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=443;epage=450;aulast=Bhakthaganesh |
| _version_ | 1797226190978678784 |
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| author | Kusumitha Bhakthaganesh Manumuraleekrishna Murugesan Vanathi Shifa Ahmed Noopur Gupta Radhika Tandon |
| author_facet | Kusumitha Bhakthaganesh Manumuraleekrishna Murugesan Vanathi Shifa Ahmed Noopur Gupta Radhika Tandon |
| author_sort | Kusumitha Bhakthaganesh |
| collection | DOAJ |
| description | Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the respiratory, liver, spleen, central nervous systems, arteries, skeletons, eyes, joints, ears, skin, and/or teeth. The various types share some common ocular features that differ in terms of the severity of the affection. Visual loss in MPS patients is varied and can be due to corneal clouding, glaucoma, retinopathy, and optic neuropathy. The primary focus of this review is on changes in the cornea and anterior segment in MPS patients, including clinical and novel investigative modalities, current surgical management, effects of systemic therapy like hematopoietic stem cell transplants (HSCT)and enzyme replacement therapy (ERT), as well as significant research developments. |
| first_indexed | 2024-04-24T14:20:59Z |
| format | Article |
| id | doaj.art-effaa58fe7614985a759093c4f8f13f8 |
| institution | Directory Open Access Journal |
| issn | 2211-5056 2211-5072 |
| language | English |
| last_indexed | 2024-04-24T14:20:59Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj.art-effaa58fe7614985a759093c4f8f13f82024-04-03T06:45:05ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722023-01-0113444345010.4103/tjo.TJO-D-23-00137MucopolysaccharidosisKusumitha BhakthaganeshManumuraleekrishnaMurugesan VanathiShifa AhmedNoopur GuptaRadhika TandonMucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the respiratory, liver, spleen, central nervous systems, arteries, skeletons, eyes, joints, ears, skin, and/or teeth. The various types share some common ocular features that differ in terms of the severity of the affection. Visual loss in MPS patients is varied and can be due to corneal clouding, glaucoma, retinopathy, and optic neuropathy. The primary focus of this review is on changes in the cornea and anterior segment in MPS patients, including clinical and novel investigative modalities, current surgical management, effects of systemic therapy like hematopoietic stem cell transplants (HSCT)and enzyme replacement therapy (ERT), as well as significant research developments.http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=443;epage=450;aulast=Bhakthaganeshanterior segment optical coherence tomographycorneal opacification measurement scoreenzyme replacement therapyglycosaminoglycanshematopoietic stem cell transplantin vivo confocal microscopymucopolysaccharidosesultrasound biomicroscopy |
| spellingShingle | Kusumitha Bhakthaganesh Manumuraleekrishna Murugesan Vanathi Shifa Ahmed Noopur Gupta Radhika Tandon Mucopolysaccharidosis Taiwan Journal of Ophthalmology anterior segment optical coherence tomography corneal opacification measurement score enzyme replacement therapy glycosaminoglycans hematopoietic stem cell transplant in vivo confocal microscopy mucopolysaccharidoses ultrasound biomicroscopy |
| title | Mucopolysaccharidosis |
| title_full | Mucopolysaccharidosis |
| title_fullStr | Mucopolysaccharidosis |
| title_full_unstemmed | Mucopolysaccharidosis |
| title_short | Mucopolysaccharidosis |
| title_sort | mucopolysaccharidosis |
| topic | anterior segment optical coherence tomography corneal opacification measurement score enzyme replacement therapy glycosaminoglycans hematopoietic stem cell transplant in vivo confocal microscopy mucopolysaccharidoses ultrasound biomicroscopy |
| url | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2023;volume=13;issue=4;spage=443;epage=450;aulast=Bhakthaganesh |
| work_keys_str_mv | AT kusumithabhakthaganesh mucopolysaccharidosis AT manumuraleekrishna mucopolysaccharidosis AT murugesanvanathi mucopolysaccharidosis AT shifaahmed mucopolysaccharidosis AT noopurgupta mucopolysaccharidosis AT radhikatandon mucopolysaccharidosis |