Visual impairment in mucopolysaccharidosis VI
Abstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-03-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12351 |
| _version_ | 1811160937613230080 |
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| author | Augusto Monteiro Magalhães Ana Filipa Moleiro Esmeralda Rodrigues Sérgio Castro José Fonseca Elisa Leão‐Teles |
| author_facet | Augusto Monteiro Magalhães Ana Filipa Moleiro Esmeralda Rodrigues Sérgio Castro José Fonseca Elisa Leão‐Teles |
| author_sort | Augusto Monteiro Magalhães |
| collection | DOAJ |
| description | Abstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow‐up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow‐up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro‐ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro‐ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients. |
| first_indexed | 2024-04-10T06:06:12Z |
| format | Article |
| id | doaj.art-72600adcd1874f669d2872a4b5a0ccc3 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-04-10T06:06:12Z |
| publishDate | 2023-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-72600adcd1874f669d2872a4b5a0ccc32023-03-03T02:28:07ZengWileyJIMD Reports2192-83122023-03-0164212913710.1002/jmd2.12351Visual impairment in mucopolysaccharidosis VIAugusto Monteiro Magalhães0Ana Filipa Moleiro1Esmeralda Rodrigues2Sérgio Castro3José Fonseca4Elisa Leão‐Teles5Department of Ophthalmology São João University Hospital Center Porto PortugalDepartment of Ophthalmology São João University Hospital Center Porto PortugalReference Centre of Inherited Metabolic Diseases, Pediatric Department São João University Hospital Center Porto PortugalDepartment of Neuroradiology São João University Hospital Center Porto PortugalDepartment of Neuroradiology São João University Hospital Center Porto PortugalReference Centre of Inherited Metabolic Diseases, Pediatric Department São João University Hospital Center Porto PortugalAbstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow‐up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow‐up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro‐ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro‐ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients.https://doi.org/10.1002/jmd2.12351blindnessglaucomamucopolysaccharidosis VIocular involvementoptic neuropathyposterior glaucoma |
| spellingShingle | Augusto Monteiro Magalhães Ana Filipa Moleiro Esmeralda Rodrigues Sérgio Castro José Fonseca Elisa Leão‐Teles Visual impairment in mucopolysaccharidosis VI JIMD Reports blindness glaucoma mucopolysaccharidosis VI ocular involvement optic neuropathy posterior glaucoma |
| title | Visual impairment in mucopolysaccharidosis VI |
| title_full | Visual impairment in mucopolysaccharidosis VI |
| title_fullStr | Visual impairment in mucopolysaccharidosis VI |
| title_full_unstemmed | Visual impairment in mucopolysaccharidosis VI |
| title_short | Visual impairment in mucopolysaccharidosis VI |
| title_sort | visual impairment in mucopolysaccharidosis vi |
| topic | blindness glaucoma mucopolysaccharidosis VI ocular involvement optic neuropathy posterior glaucoma |
| url | https://doi.org/10.1002/jmd2.12351 |
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