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A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function

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Abstract

Purpose

Biallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In this report, we describe the clinical characteristics of a Japanese male patient with POC1B-associated retinopathy with relatively preserved cone system function.

Methods

We performed whole-exome sequencing (WES) to identify the disease-causing variants and a comprehensive ophthalmic examination, including full-field and multifocal electroretinography (ffERG and mfERG).

Results

Our WES analysis identified novel compound heterozygous POC1B variants (p.Arg106Gln and p.Arg452Ter) in the patient. His unaffected mother carried the p.Arg452Ter variant heterozygously. The patient experienced decreased visual acuity in his 50s. At the age of 63, his corrected visual acuity was 20/22 in the right and 20/20 in the left eye. Fundus and fundus autofluorescence images for each eye showed no remarkable finding, except for a subtle hyperautofluorescent spot in the fovea of the left eye. Cross-sectional optical coherence tomography demonstrated blurred but a relatively preserved ellipsoid zone. The ffERG showed that amplitudes of rod and standard-flash responses were within the reference range, whereas the cone and light-adapted 30-Hz flicker amplitudes were close to, or slightly below, the reference range. The mfERG revealed substantially reduced responses with relative preservation of central function.

Conclusions

We reported the case of an older patient with POC1B-associated retinopathy, demonstrating late-onset visual decrease, good visual acuity, and relatively preserved cone system function. The disease condition was much milder than previously reported in patients with POC1B-associated retinopathy.

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Data availability

All data generated or analyzed during this study are included in this published article.

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Acknowledgements

We would like to thank Ritsuko Nakayama for assistance with genetic analysis.

Funding

This work was supported, in part, by the Grants-in-Aid for Scientific Research (KAKENHI) Grant Number 21K09756 (TH) and research funds from Alcon (TH; Tokyo, Japan), Johnson and Johnson Vision, AMO (TH; Tokyo, Japan), Daiichi Sankyo (TH; Tokyo, Japan), Chugai (TH; Tokyo, Japan), Mitsubishi Tanabe Pharma (TH; Osaka, Japan), Senju (TH; Osaka, Japan), Bayer (TH; Osaka, Japan), Ritz medical (TH; Aichi, Japan), Uni-hite (TH; Kanagawa, Japan), and Kuribara (TH; Gunma, Japan).

Author information

Authors and Affiliations

  1. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, 105-8461, Japan

    Takaaki Hayashi, Kei Mizobuchi & Tadashi Nakano

  2. Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, 6-41-2 Aoto, Katsushika-Ku, Tokyo, 125-8506, Japan

    Takaaki Hayashi

  3. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, 270-1694, Japan

    Shuhei Kameya

  4. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Aichi, 466-8550, Japan

    Shinji Ueno

  5. Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, 105-8461, Japan

    Tomokazu Matsuura

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  1. Takaaki Hayashi
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Correspondence to Takaaki Hayashi.

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Conflict of interest

Takaaki Hayashi received research funds from Alcon (Tokyo, Japan), Johnson and Johnson Vision, AMO (Tokyo, Japan), Daiichi Sankyo (Tokyo, Japan), Chugai (Tokyo, Japan), Mitsubishi Tanabe Pharma (Osaka, Japan), Senju (Osaka, Japan), Bayer (Osaka, Japan), Ritz medical (Aichi, Japan), Uni-hite (Kanagawa, Japan), and Kuribara (Gunma, Japan). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of this manuscript.

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Hayashi, T., Mizobuchi, K., Kameya, S. et al. A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function. Doc Ophthalmol 147, 59–70 (2023). https://doi.org/10.1007/s10633-023-09936-9

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  • DOI: https://doi.org/10.1007/s10633-023-09936-9

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