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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.
Life (Basel, Switzerland)
|January 8, 2025
Summary
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.
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