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Retinal and Choroidal Changes in Transthyretin-Related Amyloidosis Using Optical Coherence Tomography Modalities: A
Makan Ziafati1,2, Costanza Barresi3,4, Chiara Giuffrè5
1Iranian Research Center for HIV/AIDS, Iranian Institute for Reduction of High-Risk Behaviors, Tehran University of Medical Sciences, Tehran, Iran. makanziafati@gmail.com.
Optical coherence tomography (OCT) and OCT angiography (OCT-A) reveal retinal and choroidal changes in transthyretin-related amyloidosis (ATTR). Findings include outer nuclear layer thinning and reduced vascularity, suggesting potential as biomarkers for disease monitoring.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- Optical coherence tomography (OCT) and OCT angiography (OCT-A) are crucial for identifying ocular changes in systemic diseases.
- Transthyretin-related amyloidosis (ATTR) is a systemic disease with potential ocular manifestations.
- This review focuses on the specific retinal and choroidal alterations associated with ATTR.
Purpose of the Study:
- To systematically review and evaluate the evidence of retinal and choroidal alterations in transthyretin-related amyloidosis (ATTR).
- To assess the potential of OCT and OCT-A findings as imaging biomarkers for ATTR disease monitoring.
Main Methods:
- A systematic literature review was performed adhering to PRISMA guidelines.
- Databases searched included PubMed, Scopus, Web of Science, and Embase up to December 2024.
- Studies included genetically confirmed ATTR patients, analyzing structural and microvascular retinal/choroidal changes.
Main Results:
- Nine studies involving 246 individuals (symptomatic and pre-symptomatic) were analyzed.
- Consistent findings included outer nuclear layer (ONL) thinning, reduced superficial and deep capillary plexus vessel density, enlarged foveal avascular zone (FAZ), and decreased choroidal vascularity index (CVI).
Conclusions:
- Outer nuclear layer thinning indicates photoreceptor degeneration in ATTR.
- Decreased CVI, reduced vascular density, and enlarged FAZ suggest compromised vascular integrity.
- OCT and OCT-A show promise for early detection and monitoring of ocular ATTR, but further longitudinal studies with standardized protocols are needed.
