Fundoscopic Changes in Maroteaux-Lamy Syndrome
Purpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/4692859 |
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| author | Augusto Magalhães Jorge Meira Ana Maria Cunha Raul Jorge Moreira Elisa Leão-Teles Manuel Falcão Jorge Breda Fernando Falcão-Reis |
| author_facet | Augusto Magalhães Jorge Meira Ana Maria Cunha Raul Jorge Moreira Elisa Leão-Teles Manuel Falcão Jorge Breda Fernando Falcão-Reis |
| author_sort | Augusto Magalhães |
| collection | DOAJ |
| description | Purpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan deposits. The patient evolved with stable corneal and fundoscopic findings. Conclusions. To our knowledge, this is the first case of MPS VI described in vivo with suspected deposits of glycosaminoglycans in the sclera. Fundoscopic alterations are not usually included in the ocular pathological spectrum of MPS VI. However, with improved control of systemic comorbidities, survival rates of these patients have increased, which in turn has made it possible to observe other changes besides the ones that were classically described. Despite being particularly challenging to manage, efforts should be made to maximizing the visual acuity of these patients, in order to provide them the best possible quality of life. |
| format | Article |
| id | doaj-art-416b04f7b0664650829f24cef2ad66b5 |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-416b04f7b0664650829f24cef2ad66b52025-02-03T01:11:53ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302019-01-01201910.1155/2019/46928594692859Fundoscopic Changes in Maroteaux-Lamy SyndromeAugusto Magalhães0Jorge Meira1Ana Maria Cunha2Raul Jorge Moreira3Elisa Leão-Teles4Manuel Falcão5Jorge Breda6Fernando Falcão-Reis7Departament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalReference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartament of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalPurpose. To describe a clinical case of mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, with fundoscopic alterations that may correspond to scleral deposits of glycosaminoglycans. Materials and Methods. Clinical case report. Results. A 16-year-old girl with MPS VI was examined at the Ophthalmology Department for poor vision due to opacified corneas. Treatment consisted of bilateral penetrating keratoplasty. Retinographies and enhanced depth imaging optical coherence tomography (EDI-OCT) were performed after surgery, suggesting the presence of scleral glycosaminoglycan deposits. The patient evolved with stable corneal and fundoscopic findings. Conclusions. To our knowledge, this is the first case of MPS VI described in vivo with suspected deposits of glycosaminoglycans in the sclera. Fundoscopic alterations are not usually included in the ocular pathological spectrum of MPS VI. However, with improved control of systemic comorbidities, survival rates of these patients have increased, which in turn has made it possible to observe other changes besides the ones that were classically described. Despite being particularly challenging to manage, efforts should be made to maximizing the visual acuity of these patients, in order to provide them the best possible quality of life.http://dx.doi.org/10.1155/2019/4692859 |
| spellingShingle | Augusto Magalhães Jorge Meira Ana Maria Cunha Raul Jorge Moreira Elisa Leão-Teles Manuel Falcão Jorge Breda Fernando Falcão-Reis Fundoscopic Changes in Maroteaux-Lamy Syndrome Case Reports in Ophthalmological Medicine |
| title | Fundoscopic Changes in Maroteaux-Lamy Syndrome |
| title_full | Fundoscopic Changes in Maroteaux-Lamy Syndrome |
| title_fullStr | Fundoscopic Changes in Maroteaux-Lamy Syndrome |
| title_full_unstemmed | Fundoscopic Changes in Maroteaux-Lamy Syndrome |
| title_short | Fundoscopic Changes in Maroteaux-Lamy Syndrome |
| title_sort | fundoscopic changes in maroteaux lamy syndrome |
| url | http://dx.doi.org/10.1155/2019/4692859 |
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