Anderson–Fabry Disease: Focus on Ophthalmological Implications
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has be...
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MDPI AG
2024-11-01
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| author | Francesca Giovannetti Mattia D’Andrea Federico Bracci Andrea Frustaci Cristina Chimenti Pietro Mangiantini Alessandro Lambiase Marco Marenco |
| author_facet | Francesca Giovannetti Mattia D’Andrea Federico Bracci Andrea Frustaci Cristina Chimenti Pietro Mangiantini Alessandro Lambiase Marco Marenco |
| author_sort | Francesca Giovannetti |
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| description | Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward. However, when residual activity is present, the delayed and less obvious presentation can make diagnosis more challenging. Ophthalmological alterations, which can be detected through non-invasive examinations may play a crucial role in correctly assessing the patient in terms of diagnosis and prognosis, particularly in these atypical cases. Recognizing these ocular signs allows for timely intervention with ERT, leading to improved patient outcomes. This review highlights the importance of ophthalmological findings in FD, emphasizing their role in diagnosis and treatment planning. By raising awareness among ophthalmologists and healthcare specialists, this review aims to improve disease management, offering tools for early detection and better long-term prognosis in patients with FD. |
| format | Article |
| id | doaj-art-d99d7f5a9ddf41a0b096ca2da036b21a |
| institution | Kabale University |
| issn | 2075-1729 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
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| series | Life |
| spelling | doaj-art-d99d7f5a9ddf41a0b096ca2da036b21a2024-12-27T14:35:49ZengMDPI AGLife2075-17292024-11-011412153110.3390/life14121531Anderson–Fabry Disease: Focus on Ophthalmological ImplicationsFrancesca Giovannetti0Mattia D’Andrea1Federico Bracci2Andrea Frustaci3Cristina Chimenti4Pietro Mangiantini5Alessandro Lambiase6Marco Marenco7Rare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyRare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyRare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyCellular and Molecular Cardiology Lab, IRCCS L. Spallanzani, Via Portuense, 292, 00149 Rome, ItalyDepartment of Clinical, Internal, Anesthesiologist and Cardiovascular Sciences, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyRare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyRare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyRare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, ItalyFabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward. However, when residual activity is present, the delayed and less obvious presentation can make diagnosis more challenging. Ophthalmological alterations, which can be detected through non-invasive examinations may play a crucial role in correctly assessing the patient in terms of diagnosis and prognosis, particularly in these atypical cases. Recognizing these ocular signs allows for timely intervention with ERT, leading to improved patient outcomes. This review highlights the importance of ophthalmological findings in FD, emphasizing their role in diagnosis and treatment planning. By raising awareness among ophthalmologists and healthcare specialists, this review aims to improve disease management, offering tools for early detection and better long-term prognosis in patients with FD.https://www.mdpi.com/2075-1729/14/12/1531Fabry diseaselysosomal storage disordercornea verticillataenzyme replacement therapyvessel tortuosityretinal vessel density |
| spellingShingle | Francesca Giovannetti Mattia D’Andrea Federico Bracci Andrea Frustaci Cristina Chimenti Pietro Mangiantini Alessandro Lambiase Marco Marenco Anderson–Fabry Disease: Focus on Ophthalmological Implications Life Fabry disease lysosomal storage disorder cornea verticillata enzyme replacement therapy vessel tortuosity retinal vessel density |
| title | Anderson–Fabry Disease: Focus on Ophthalmological Implications |
| title_full | Anderson–Fabry Disease: Focus on Ophthalmological Implications |
| title_fullStr | Anderson–Fabry Disease: Focus on Ophthalmological Implications |
| title_full_unstemmed | Anderson–Fabry Disease: Focus on Ophthalmological Implications |
| title_short | Anderson–Fabry Disease: Focus on Ophthalmological Implications |
| title_sort | anderson fabry disease focus on ophthalmological implications |
| topic | Fabry disease lysosomal storage disorder cornea verticillata enzyme replacement therapy vessel tortuosity retinal vessel density |
| url | https://www.mdpi.com/2075-1729/14/12/1531 |
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