To evaluate structural and microvascular retinal alterations in patients with Alport syndrome (AS) using spectral-domain OCT and swept-source OCT-A, highlighting the significance of these imaging techniques in clinical practice.
Key Findings:
Patients with AS exhibited significant retinal structural changes, including thinning across multiple retinal layers, which may indicate disease progression.
Microvascular alterations were observed, including reduced foveal avascular zone area and decreased vascular density, suggesting impaired retinal perfusion.
Structural abnormalities correlated with the presence of specific genetic mutations in COL4A genes, indicating a potential genetic basis for the observed changes.
Interpretation:
The findings suggest that AS is associated with both structural and microvascular retinal changes, which may aid in early diagnosis and monitoring of the disease, potentially influencing treatment strategies.
Limitations:
Retrospective design may introduce selection bias.
Exclusion of patients with other retinal diseases limits generalizability.
The relatively small sample size may affect the robustness of the findings.
Conclusion:
Multimodal imaging can effectively reveal retinal changes in AS, highlighting the importance of OCT and OCT-A in understanding the disease's ocular manifestations and guiding future research.
