Atypical corneal clouding in mucopolysaccharidoses
The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilatera...
| 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: | Oman Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2023;volume=16;issue=1;spage=154;epage=156;aulast=Stephen |
| _version_ | 1797866402983444480 |
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| author | Mary Stephen M Loganathan S Swathi B Priyavadhana |
| author_facet | Mary Stephen M Loganathan S Swathi B Priyavadhana |
| author_sort | Mary Stephen |
| collection | DOAJ |
| description | The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type I S (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea. The patient also had typical facial and skeletal abnormalities of lysosomal storage disorder. To our best knowledge, MPS 1 with marked corneal clouding with sparing of central cornea is very rare and has not been reported. This case report emphasizes on the atypical ocular presentation of MPS and the need for ophthalmological screening in the storage disorders. |
| first_indexed | 2024-04-09T23:24:41Z |
| format | Article |
| id | doaj.art-faaefbaf112e4d76b3b6d4a274288d1f |
| institution | Directory Open Access Journal |
| issn | 0974-620X |
| language | English |
| last_indexed | 2024-04-09T23:24:41Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Oman Journal of Ophthalmology |
| spelling | doaj.art-faaefbaf112e4d76b3b6d4a274288d1f2023-03-21T11:25:38ZengWolters Kluwer Medknow PublicationsOman Journal of Ophthalmology0974-620X2023-01-0116115415610.4103/ojo.ojo_14_22Atypical corneal clouding in mucopolysaccharidosesMary StephenM LoganathanS SwathiB PriyavadhanaThe etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS). The lysosomal storage disorders are associated with a varied ocular manifestation including bilateral corneal clouding which is often mild and stippled except in few cases like Hunter syndrome where cornea is often clear. We report a case of MPS Type I S (MPS 1) with near-normal visual acuity and bilateral dense corneal clouding with sparing of central 3 mm of cornea. The patient also had typical facial and skeletal abnormalities of lysosomal storage disorder. To our best knowledge, MPS 1 with marked corneal clouding with sparing of central cornea is very rare and has not been reported. This case report emphasizes on the atypical ocular presentation of MPS and the need for ophthalmological screening in the storage disorders.http://www.ojoonline.org/article.asp?issn=0974-620X;year=2023;volume=16;issue=1;spage=154;epage=156;aulast=Stephencorneal cloudingmucopolysaccharidoses type 1mucopolysaccharidosesskeletal deformitiesstorage disorders |
| spellingShingle | Mary Stephen M Loganathan S Swathi B Priyavadhana Atypical corneal clouding in mucopolysaccharidoses Oman Journal of Ophthalmology corneal clouding mucopolysaccharidoses type 1 mucopolysaccharidoses skeletal deformities storage disorders |
| title | Atypical corneal clouding in mucopolysaccharidoses |
| title_full | Atypical corneal clouding in mucopolysaccharidoses |
| title_fullStr | Atypical corneal clouding in mucopolysaccharidoses |
| title_full_unstemmed | Atypical corneal clouding in mucopolysaccharidoses |
| title_short | Atypical corneal clouding in mucopolysaccharidoses |
| title_sort | atypical corneal clouding in mucopolysaccharidoses |
| topic | corneal clouding mucopolysaccharidoses type 1 mucopolysaccharidoses skeletal deformities storage disorders |
| url | http://www.ojoonline.org/article.asp?issn=0974-620X;year=2023;volume=16;issue=1;spage=154;epage=156;aulast=Stephen |
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