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Background <p>Alport syndrome (AS) is a hereditary disorder caused by mutations in type IV collagen genes and is frequently associated with ocular manifestations. Although anterior segment findings are well described, retinal structural and microvascular alterations in AS remain insufficiently characterized. This study aimed to comprehensively characterize retinal structural and microvascular alterations in patients with AS using spectral-domain optical coherence tomography (SD-OCT) and swept-source OCT angiography (SS-OCTA).</p> Methods <p>This retrospective cross-sectional study included 68 eyes of 34 patients with genetically or clinically confirmed AS and 68 eyes of 68 age- and sex-matched healthy controls. Retinal layer thickness was measured at 500, 1000, 1500, and 3000&#xa0;μm from the foveal center in the nasal and temporal quadrants using SD-OCT. SS-OCTA was used to quantify the foveal avascular zone (FAZ) area, acircularity index (AI), and vessel density (VD) in the superficial and deep capillary plexuses and flow/non-flow areas. All segmentations were manually reviewed and corrected accordingly. Intra-subject correlations were accounted for using generalized estimating equations with false discovery rate corrections for multiple comparisons.</p> Results <p>Eyes with AS exhibited significant temporal macular thinning at all eccentricities (<i>p</i> &lt; 0.001), predominantly involving the inner retinal layers but also affecting the outer plexiform and outer nuclear layers. The FAZ area was significantly smaller in the AS group than in the control group (0.19 ± 0.10 vs. 0.28 ± 0.10&#xa0;mm²; <i>p</i> &lt; 0.001), whereas the AI was higher (1.13 ± 0.07 vs. 1.10 ± 0.04; <i>p</i> = 0.025). VD was significantly reduced in both capillary plexuses, particularly in temporal and inferior quadrants (<i>p</i> &lt; 0.001). Patients with foveal hypoplasia were excluded.</p> Conclusions <p>AS is associated with temporal retinal thinning that extends from the inner to outer retinal layers, together with significant microvascular alterations predominantly in the temporal macula. These multimodal OCT and OCTA findings provide novel insights into the pathophysiology of the disease and highlight their potential as non-invasive biomarkers for the early detection and longitudinal monitoring of ocular involvement in AS.</p>

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Retinal and microvascular alterations in Alport syndrome: a multimodal imaging study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月19日

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  • Irem Kirci Dogan,
  • Caner Incekas,
  • Imren Akkoyun,
  • Sezin Akca Bayar,
  • Gursel Yilmaz

摘要

Background

Alport syndrome (AS) is a hereditary disorder caused by mutations in type IV collagen genes and is frequently associated with ocular manifestations. Although anterior segment findings are well described, retinal structural and microvascular alterations in AS remain insufficiently characterized. This study aimed to comprehensively characterize retinal structural and microvascular alterations in patients with AS using spectral-domain optical coherence tomography (SD-OCT) and swept-source OCT angiography (SS-OCTA).

Methods

This retrospective cross-sectional study included 68 eyes of 34 patients with genetically or clinically confirmed AS and 68 eyes of 68 age- and sex-matched healthy controls. Retinal layer thickness was measured at 500, 1000, 1500, and 3000 μm from the foveal center in the nasal and temporal quadrants using SD-OCT. SS-OCTA was used to quantify the foveal avascular zone (FAZ) area, acircularity index (AI), and vessel density (VD) in the superficial and deep capillary plexuses and flow/non-flow areas. All segmentations were manually reviewed and corrected accordingly. Intra-subject correlations were accounted for using generalized estimating equations with false discovery rate corrections for multiple comparisons.

Results

Eyes with AS exhibited significant temporal macular thinning at all eccentricities (p < 0.001), predominantly involving the inner retinal layers but also affecting the outer plexiform and outer nuclear layers. The FAZ area was significantly smaller in the AS group than in the control group (0.19 ± 0.10 vs. 0.28 ± 0.10 mm²; p < 0.001), whereas the AI was higher (1.13 ± 0.07 vs. 1.10 ± 0.04; p = 0.025). VD was significantly reduced in both capillary plexuses, particularly in temporal and inferior quadrants (p < 0.001). Patients with foveal hypoplasia were excluded.

Conclusions

AS is associated with temporal retinal thinning that extends from the inner to outer retinal layers, together with significant microvascular alterations predominantly in the temporal macula. These multimodal OCT and OCTA findings provide novel insights into the pathophysiology of the disease and highlight their potential as non-invasive biomarkers for the early detection and longitudinal monitoring of ocular involvement in AS.