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Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex

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Abstract

Purpose

To investigate the clinical features and spectral-domain optical coherence tomography (SD-OCT) findings of retinal astrocytic hamartoma (RAH) in Chinese patients with tuberous sclerosis complex (TSC).

Methods

The medical records of 91 consecutive patients with established TSC diagnosis were retrospectively reviewed. Fundus findings regarding RAH documented by fundus photography and SD-OCT at presentation were collected and analyzed.

Results

RAHs were seen in 69 of the 91 patients (75.8%); 50.7% of these patients showed bilateral retinal involvement. Type 1 RAH was found the most common type with a prevalence of 94.2%, while type 2 and type 3 RAH with 7.2% and 18.8% respectively. A significant correlation between age and RAH types was shown by Fisher’s exact test (p < 0.001). By SD-OCT, non-calcified RAHs featured in hyperreflective thickening of the retinal nerve fiber layer with some degree of retinal disorganization, while multinodular calcified RAHs characterized with moth-eaten appearances representing intraretinal calcification with posterior dense optical shadowing.

Conclusion

A higher prevalence of TSC-associated RAH but an unexpected lower prevalence of calcified RAHs was shown in Chinese compared with that of Caucasians. SD-OCT can be used to facilitate the detection and follow-up of RAHs.

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Funding

This study was funded by The National Key Research and Development Program of China (2016YFC0901502), and the Chinese Academy of Medical Sciences (CAMS) Initiative for Innovative Medicine (2017-12M-2-001).

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Authors and Affiliations

  1. Department of Ophthalmology, Key laboratory of Ocular Fundus Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1# Shuai Fu Yuan, Dongcheng District, Beijing, 100730, China

    Chenxi Zhang, Qin Long, Zhikun Yang, Rongping Dai, Hong Du, Donghui Li & Zhiqiao Zhang

  2. Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

    Kaifeng Xu

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  1. Chenxi Zhang
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Correspondence to Zhiqiao Zhang.

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The authors declare that they have no conflicts of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of Peking Union Medical College Hospital Institutional Review Board and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Zhang, C., Xu, K., Long, Q. et al. Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex. Graefes Arch Clin Exp Ophthalmol 258, 887–892 (2020). https://doi.org/10.1007/s00417-019-04476-y

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