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Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases

Eye volume 38, pages 328–334 (2024)Cite this article

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Abstract

Background

To investigate the prevalence of outer retinal tubulation (ORT) and its correlations with optical coherence tomography (OCT) parameters in Chinese population with inherited retinal diseases (IRDs).

Methods

This retrospective study enrolled consecutive patients identified with IRDs and referred for genetic testing between February 2016 and April 2021. Clinical characteristics from medical records and features of cross-sectional B-scans were reviewed and analysed. The associations of patient-specific and ocular features with the presence of ORT were evaluated using univariate and multivariate analyses.

Results

Two hundred and three patients (401 eyes) with a mean age of 49.7 ± 16.7 years were enrolled. ORT was observed in 41 eyes (10.2%), including 26 of 28 eyes (92.9%) with Bietti crystalline corneoretinal dystrophy (BCD), 14 of 338 eyes (4.1%) with retinitis pigmentosa (RP), and 1 of 26 eyes (3.8%) in eyes with cone–rod dystrophy. Eyes with ORT showed significantly worse visual acuity than those without ORT (P = 0.002). Multivariate analysis indicated that the presence of ORT was positively correlated with choroidal atrophy and inner nuclear layer (INL) cysts (P < 0.01). ORTs were detected more frequently in eyes with BCD than RP (P = 0.024), most of which located exclusively within the extrafoveal area. Large choroidal vessels were detected underneath the corresponding ORTs in both patients with BCD and RP.

Conclusions

The prevalence of ORT varies among different IRDs phenotypes, with the highest prevalence in BCD. The presence of choroidal atrophy and INL cysts may be associated with an increased risk of ORT formation in patients with IRD.

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Fig. 1: Spectral-domain optical coherence tomography (SD-OCT) images showing outer retinal tubulations (ORTs) in patients with inherited retinal disease (IRDs) over 5-year follow-up.
Fig. 2: Spectral-domain optical coherence tomography (SD-OCT) images of specific location of outer retinal tubulations (ORTs) and underlying choroidal vessels.

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Data availability

The datasets generated and/or analysed during the current study are not publicly available due funding requirement but are available from the corresponding author on reasonable request.

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Acknowledgements

We thank the patients for granting permission to publish this information.

Funding

None of the authors has any financial/conflicting interests to disclose. Supported by the National Natural Science Foundation of China (82101168), and the Science and Technology Commission of Shanghai Municipality (20Z11900400 and 21ZR1451500).

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Author notes

  1. These authors contributed equally: Yuhong Chen, Jieqiong Chen.

Authors and Affiliations

  1. Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

    Yuhong Chen, Jieqiong Chen, Hong Wang, Yang Yu, Wenqiu Wang, Wenjia Liu, Suqin Yu, Yuanyuan Gong, Huixun Jia, Tong Li & Xiaodong Sun

  2. National Clinical Research Center for Ophthalmic Diseases, Shanghai, China

    Yuhong Chen, Jieqiong Chen, Hong Wang, Wenqiu Wang, Wenjia Liu, Suqin Yu, Yuanyuan Gong, Huixun Jia, Tong Li & Xiaodong Sun

  3. Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai, China

    Huixun Jia & Xiaodong Sun

  4. Shanghai Key Laboratory of Fundus Diseases, Shanghai, China

    Xiaodong Sun

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Contributions

Study concept and design: TL, XS; acquisition, analysis, or interpretation of data: YC, JC, TL, XS; data Collection: JC, HW, YY, WW, WL, SY, YG, TL, XS; drafting of the manuscript: YC, TL, XS; critical revision of the manuscript for important intellectual content: TL, XS; statistical analysis: YC, HJ and TL; overall responsibility: YC, JC, TL, XS.

Corresponding authors

Correspondence to Tong Li or Xiaodong Sun.

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Competing interests

The authors declare no competing interests.

Ethics statement

This study was approved by the Ethics Committee and Institutional Review Board of Shanghai General Hospital (Reference number: 2020SQ328). All protocols adhered to the tenets of the Declaration of Helsinki.

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Chen, Y., Chen, J., Wang, H. et al. Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases. Eye 38, 328–334 (2024). https://doi.org/10.1038/s41433-023-02686-7

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