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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Main Authors: Augusto Magalhães, Ana Maria Cunha, Rodrigo Vilares-Morgado, Elisa Leão-Teles, Esmeralda Rodrigues, Manuel Falcão, Ângela Carneiro, Jorge Breda, Fernando Falcão-Reis
Format: Article
Language:English
Published: Wiley 2021-01-01
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.
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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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