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Anderson-Fabry Disease: Focus on Ophthalmological Implications
Francesca Giovannetti1, Mattia D'Andrea1, Federico Bracci1
1Rare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, Italy.
Insights
Ophthalmological findings are crucial for diagnosing Fabry disease (FD), a rare genetic disorder. Early detection of ocular signs aids in timely enzyme replacement therapy (ERT), improving patient prognosis.
Area of Science:
- Genetics and rare diseases
- Ophthalmology
- Metabolic disorders
Background:
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
- It presents with diverse clinical manifestations, including renal, cardiac, and cerebrovascular complications.
- Early enzyme replacement therapy (ERT) can mitigate severe events and slow disease progression.
Purpose of the Study:
- To highlight the diagnostic and prognostic significance of ophthalmological findings in Fabry disease.
- To emphasize the role of ocular signs in identifying atypical FD cases.
- To improve disease management through early detection and timely intervention.
Main Methods:
- Review of existing literature on Fabry disease and ophthalmological manifestations.
- Analysis of the diagnostic utility of non-invasive ocular examinations.
- Emphasis on the correlation between ocular signs and disease severity/progression.
Main Results:
- Ophthalmological alterations are key indicators for diagnosing FD, especially in atypical presentations.
- Non-invasive eye examinations can facilitate early and accurate diagnosis.
- Recognition of ocular signs enables prompt initiation of ERT, improving patient outcomes.
Conclusions:
- Ophthalmological findings are vital for the diagnosis and prognosis of Fabry disease.
- Timely identification of ocular signs facilitates early ERT, enhancing long-term patient management.
- Increased awareness among specialists can lead to improved outcomes for FD patients.
Abstract:
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.
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