Mucopolysaccharidosis: A rare case from ophthalmology perspective
The purpose of this article was to report a rare case of mucopolysaccharidosis (MPS) type-I, Hurler–Scheie affecting a 10-year-old boy with a combination of ophthalmological, skeletal, neurological, orodental, and radiological findings. MPSs are a group of lysosomal storage disorders caused by inbor...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Journal of Clinical Ophthalmology and Research |
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| Online Access: | https://journals.lww.com/10.4103/jcor.jcor_98_24 |
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| author | Santosh Singh Patel Rajesh Kumar Sahu Reshu Malhotra Anju Bhaskar A. K. Chandrakar |
| author_facet | Santosh Singh Patel Rajesh Kumar Sahu Reshu Malhotra Anju Bhaskar A. K. Chandrakar |
| author_sort | Santosh Singh Patel |
| collection | DOAJ |
| description | The purpose of this article was to report a rare case of mucopolysaccharidosis (MPS) type-I, Hurler–Scheie affecting a 10-year-old boy with a combination of ophthalmological, skeletal, neurological, orodental, and radiological findings. MPSs are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan metabolism. MPS type-I is a rare autosomal recessive disorder that is clinically progressive caused by deficiency of the lysosomal enzyme, α-L-iduronidase, which is required to break down heparan and dermatan sulfates resulting in progressive accumulation of glycosaminoglycans within the lysosomes, subsequently leading to multiorgan dysfunction and damage. Newer treatment modalities 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 the management of ocular symptoms. |
| format | Article |
| id | doaj-art-557d6eb90d3441a5ade3fc65c211348d |
| institution | Kabale University |
| issn | 2320-3897 2320-3900 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical Ophthalmology and Research |
| spelling | doaj-art-557d6eb90d3441a5ade3fc65c211348d2025-02-06T06:38:52ZengWolters Kluwer Medknow PublicationsJournal of Clinical Ophthalmology and Research2320-38972320-39002025-01-0113113013310.4103/jcor.jcor_98_24Mucopolysaccharidosis: A rare case from ophthalmology perspectiveSantosh Singh PatelRajesh Kumar SahuReshu MalhotraAnju BhaskarA. K. ChandrakarThe purpose of this article was to report a rare case of mucopolysaccharidosis (MPS) type-I, Hurler–Scheie affecting a 10-year-old boy with a combination of ophthalmological, skeletal, neurological, orodental, and radiological findings. MPSs are a group of lysosomal storage disorders caused by inborn errors of glycosaminoglycan metabolism. MPS type-I is a rare autosomal recessive disorder that is clinically progressive caused by deficiency of the lysosomal enzyme, α-L-iduronidase, which is required to break down heparan and dermatan sulfates resulting in progressive accumulation of glycosaminoglycans within the lysosomes, subsequently leading to multiorgan dysfunction and damage. Newer treatment modalities 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 the management of ocular symptoms.https://journals.lww.com/10.4103/jcor.jcor_98_24autosomal recessivemacroglossiamucopolysaccharidosis |
| spellingShingle | Santosh Singh Patel Rajesh Kumar Sahu Reshu Malhotra Anju Bhaskar A. K. Chandrakar Mucopolysaccharidosis: A rare case from ophthalmology perspective Journal of Clinical Ophthalmology and Research autosomal recessive macroglossia mucopolysaccharidosis |
| title | Mucopolysaccharidosis: A rare case from ophthalmology perspective |
| title_full | Mucopolysaccharidosis: A rare case from ophthalmology perspective |
| title_fullStr | Mucopolysaccharidosis: A rare case from ophthalmology perspective |
| title_full_unstemmed | Mucopolysaccharidosis: A rare case from ophthalmology perspective |
| title_short | Mucopolysaccharidosis: A rare case from ophthalmology perspective |
| title_sort | mucopolysaccharidosis a rare case from ophthalmology perspective |
| topic | autosomal recessive macroglossia mucopolysaccharidosis |
| url | https://journals.lww.com/10.4103/jcor.jcor_98_24 |
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