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Background <p>This study aimed to analyse the multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).</p> Methods <p>This retrospective observational study included patients (n = 40) who were diagnosed with CHRRPE at the Second Hospital of Jilin University between March 2008 and March 2024. The characteristics of the multimodal images of the fundus of the affected eyes, including the patients’ fundus images, optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA) and indocyanine green angiography (ICGA) imaging, were evaluated and summarised.</p> Results <p>The study analyzed 40 eyes from patients (mean age: 26.88&#xa0;years, 47.5% male). Macular involvement was observed in 80% of cases, with lesions primarily yellowish-white (67.5%) and located at the posterior pole (87.5%). Retinal staging revealed 85% in stage 2, with 97.5% exhibiting proliferative membranes. Of these, 34 eyes underwent OCT, and their characteristic manifestations were small peaks (mini-peaks) in 23 eyes (67.6%), large peaks (maxi-peaks) in 23 eyes (67.6%), shark teeth sign in seven eyes (20.6%), omega sign in six eyes (17.6%), and double-retina sign in eight eyes (23.5%). And those involving the optic disc are more likely to invade the nasal retina of fovea (<i>n</i> = 10, 71.4%). Furthermore, while FAF showed hypofluorescent lesions with hyperfluorescent margins in some cases. FFA highlighted vascular abnormalities and late leakage in 90% of eyes, and ICGA demonstrated early hypofluorescence with late mottled fluorescence.</p> Conclusion <p>Multimodal image analysis of 40 patients with CHRRPE revealed some unique structural features of CHRRPE. Among them, optical coherence tomography provided an accurate qualitative analysis of CHRRPE features, which facilitated disease diagnosis and guided treatment.</p>

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Multimodal imaging analysis of 40 cases of combined hamartoma of the retina and retinal pigment epithelium: a retrospective observational study

  • 期刊论文

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  • 发表日期：

    2025年7月1日

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  • Yao Xu,
  • Jiaxin Chen,
  • Xixi Wei,
  • Jiahui Zhang,
  • Xin Pan

摘要

Background

This study aimed to analyse the multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).

Methods

This retrospective observational study included patients (n = 40) who were diagnosed with CHRRPE at the Second Hospital of Jilin University between March 2008 and March 2024. The characteristics of the multimodal images of the fundus of the affected eyes, including the patients’ fundus images, optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA) and indocyanine green angiography (ICGA) imaging, were evaluated and summarised.

Results

The study analyzed 40 eyes from patients (mean age: 26.88 years, 47.5% male). Macular involvement was observed in 80% of cases, with lesions primarily yellowish-white (67.5%) and located at the posterior pole (87.5%). Retinal staging revealed 85% in stage 2, with 97.5% exhibiting proliferative membranes. Of these, 34 eyes underwent OCT, and their characteristic manifestations were small peaks (mini-peaks) in 23 eyes (67.6%), large peaks (maxi-peaks) in 23 eyes (67.6%), shark teeth sign in seven eyes (20.6%), omega sign in six eyes (17.6%), and double-retina sign in eight eyes (23.5%). And those involving the optic disc are more likely to invade the nasal retina of fovea (n = 10, 71.4%). Furthermore, while FAF showed hypofluorescent lesions with hyperfluorescent margins in some cases. FFA highlighted vascular abnormalities and late leakage in 90% of eyes, and ICGA demonstrated early hypofluorescence with late mottled fluorescence.

Conclusion

Multimodal image analysis of 40 patients with CHRRPE revealed some unique structural features of CHRRPE. Among them, optical coherence tomography provided an accurate qualitative analysis of CHRRPE features, which facilitated disease diagnosis and guided treatment.