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Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization

  • Retinal Disorders
  • Published:
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Abstract

Purpose

To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV).

Methods

This was a retrospective, multicenter observational case series. Fourteen genetically confirmed BVMD patients and 9 ARB patients who had been examined in 2 ophthalmological institutions in Japan were studied. The findings in a series of ophthalmic examinations including B-scan optical coherence tomography (OCT) and OCT angiography (OCTA) were reviewed.

Results

CNV was identified in 5 eyes (17.9%) of BVMD patients and in 2 eyes (11.1%) of ARB patients. Three of 5 eyes with BVMD were classified as being at the vitelliruptive stage and 2 eyes at the atrophic stage. The CNV in 2 BVMD eyes were diagnosed as exudative because of acute visual acuity reduction, retinal hemorrhage, and intraretinal fluid, while the CNV in 3 BVMD eyes and 2 ARB eyes were diagnosed as non-exudative. The visual acuity of the two eyes with exudative CNV did not improve despite anti-VEGF treatments. None of the eyes with non-exudative CNV had a reduction of their visual acuity for at least 4 years. All of the CNV were located within hyperreflective materials which were detected in 16 eyes (57.1%) of the BVMD eyes and in 7 eyes (38.9%) of the ARB eyes.

Conclusions

CNV is a relatively common complication in BEST1-related retinopathy in Asian population as well. The prognosis of eyes with exudative CNV is not always good, and OCTA can detect CNV in eyes possessing hyperreflective materials.

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Availability of data and material

The data that support the findings of this study are available from the corresponding author, SU, upon reasonable request.

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Acknowledgements

The authors thank Professor Emeritus Duco Hamasaki of the Bascom Palmer Eye Institute for the discussions and editing the final version of the manuscript. The swept-source optical coherence tomography device used in this study was on loan from Carl Zeiss Meditec.

Funding

This work was supported in part by the Japan Society for the Promotion of Science (JSPS) KAKENHI Grant numbers 19K09928 to S.U. and 21K0975 to T.H. and Takayanagi Retina Research Award to M.M.

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Authors and Affiliations

  1. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Mai Miyagi, Jun Takeuchi, Yoshito Koyanagi, Yasuki Ito, Hiroko Terasaki, Koji M. Nishiguchi & Shinji Ueno

  2. Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

    Yoshito Koyanagi

  3. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan

    Kei Mizobuchi & Takaaki Hayashi

  4. Department of Ophthalmology, Fujita Health University School of Medicine, Toyoake, Japan

    Yasuki Ito

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  1. Mai Miyagi
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Contributions

MM and SU conceived of the presented idea. MM, KM, and SU collected clinical and image data. TH and YK performed gene analysis. MM, JT, and SU verified the analytical methods. YI, HT, and KN helped supervise the project. SU supervised the project. All authors discussed the results and contributed to the final manuscript.

Corresponding author

Correspondence to Shinji Ueno.

Ethics declarations

Ethics approval

The procedures used in this study adhered to the tenets of the Declaration of Helsinki and were approved by the Institutional Review Board (IRB) of Nagoya University (approval number 2020–0173) and Jikei University School of Medicine (approval number 24–231, 6997).

Consent to participate

Written informed consents were obtained from all the patient.

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I, SU, transfers to Springer the publication rights and he warrants that his contribution is original and that he has full power to make this grant. The author signs for and accepts responsibility for releasing this material on behalf of any and all co-authors.

I understand that the text and any pictures published in the article will be used only in educational publications intended for professional or if the publication or product is published on an open access basis, I understand that it will be freely available on the internet and may be seen by the general public. The pictures and text may also appear on other websites or in print, and may be translated into other languages or used for commercial purposes. I understand that the information will be published without my name attached, but that full anonymity cannot be guaranteed. I have been offered the opportunity to read the manuscript. I acknowledge that it is not possible to ensure complete anonymity, and someone may be able to recognize me. However, by signing this consent form, I do not in any way give up, waive, or remove my rights to privacy. I may revoke my consent at any time before publication, but once the information has been committed to publication (“gone to press”), revocation of the consent is no longer possible.

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Miyagi, M., Takeuchi, J., Koyanagi, Y. et al. Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol 260, 1125–1137 (2022). https://doi.org/10.1007/s00417-021-05447-y

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