Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies
Purpose. To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and gene...
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| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2021/8866837 |
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| author | Augusto Magalhães Ana Maria Cunha Rodrigo Vilares-Morgado Elisa Leão-Teles Esmeralda Rodrigues Manuel Falcão Ângela Carneiro Jorge Breda Fernando Falcão-Reis |
| author_facet | Augusto Magalhães Ana Maria Cunha Rodrigo Vilares-Morgado Elisa Leão-Teles Esmeralda Rodrigues Manuel Falcão Ângela Carneiro Jorge Breda Fernando Falcão-Reis |
| author_sort | Augusto Magalhães |
| collection | DOAJ |
| description | Purpose. To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. En face OCT imaging revealed two hyperreflective rings on the outer retinal level. Conclusion. This patient developed macular changes with foveal deposition of hyperreflective material and parafoveal thinning, despite early systemic treatment. Systemic therapies can provide an increase in life expectancy and stabilize visual acuity and corneal clouding, although their effect on retinal degeneration is unknown. |
| format | Article |
| id | doaj-art-bfb69013db164d508b580b159d555ea8 |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-bfb69013db164d508b580b159d555ea82025-02-03T06:43:57ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302021-01-01202110.1155/2021/88668378866837Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic TherapiesAugusto Magalhães0Ana Maria Cunha1Rodrigo Vilares-Morgado2Elisa Leão-Teles3Esmeralda Rodrigues4Manuel Falcão5Ângela Carneiro6Jorge Breda7Fernando Falcão-Reis8Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalPediatric Department, Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de São João, Porto, PortugalPediatric Department, Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalDepartment of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, PortugalPurpose. To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. En face OCT imaging revealed two hyperreflective rings on the outer retinal level. Conclusion. This patient developed macular changes with foveal deposition of hyperreflective material and parafoveal thinning, despite early systemic treatment. Systemic therapies can provide an increase in life expectancy and stabilize visual acuity and corneal clouding, although their effect on retinal degeneration is unknown.http://dx.doi.org/10.1155/2021/8866837 |
| spellingShingle | Augusto Magalhães Ana Maria Cunha Rodrigo Vilares-Morgado Elisa Leão-Teles Esmeralda Rodrigues Manuel Falcão Ângela Carneiro Jorge Breda Fernando Falcão-Reis Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies Case Reports in Ophthalmological Medicine |
| title | Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies |
| title_full | Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies |
| title_fullStr | Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies |
| title_full_unstemmed | Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies |
| title_short | Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies |
| title_sort | macular changes in a mucopolysaccharidosis type i patient with earlier systemic therapies |
| url | http://dx.doi.org/10.1155/2021/8866837 |
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