Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia

Mete, Alper; Dogan, Levent; Ozcakmakci, Gazi Bekir; Sayıner, Zeynel Abidin; Güngör, Kıvanç

doi:10.1007/s10792-022-02626-6

Int Ophthalmol

2023

DOI: 10.1007/s10792-022-02626-6

|View full text |Cite

Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia

Alper Mete

Levent Dogan

Gazi Bekir Ozcakmakci

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Anderson–Fabry Disease: Focus on Ophthalmological Implications

Giovannetti,

D’Andrea,

Bracci

et al. 2024

Life

View full text Add to dashboard Cite

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.

show abstract

Anderson–Fabry Disease: Focus on Ophthalmological Implications

Giovannetti,

D’Andrea,

Bracci

et al. 2024

Life

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia

Cited by 1 publication

References 36 publications

Anderson–Fabry Disease: Focus on Ophthalmological Implications

Anderson–Fabry Disease: Focus on Ophthalmological Implications

Contact Info

Product

Resources

About