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The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

  • Clinical Case Report
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Abstract

Purpose

To describe the clinical and genetic findings of patients in the second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD).

Methods

Two patients (a 41-year-old male proband and his third son) underwent comprehensive ophthalmic examinations, including full-field and multifocal electroretinography (ERG). Sanger sequencing was performed to detect an EFEMP1 gene variant (p.Arg345Trp), which was identified as the only causative pathogenic variant.

Results

Genetic analysis revealed that both patients carried the heterozygous variant, but the other unaffected family members did not. Although the proband exhibited innumerable radially distributed drusen in both the posterior poles and good visual acuity at initial presentation, bilateral choroidal neovascularization (CNV) developed during the 15-year follow-up. The proband received 15 intravitreal anti-vascular endothelial growth factor (VEGF) injections in the left eye (LE) and two injections in the right eye (RE). At 56 years of age, his decimal best-corrected visual acuity was 0.1 and 1.2 in the LE and RE, respectively. Full-field ERG showed that while the rod and combined responses were within normal amplitudes, the cone and 30-Hz flicker responses had slightly decreased amplitudes. Multifocal ERG revealed attenuated central responses in the LE and decreased temporal responses in the RE. In the 20-year-old son, multifocal ERG showed normal responses in both eyes.

Conclusion

This is the first report of ML/DHRD in a patient who developed bilateral CNV and received anti-VEGF treatment in both eyes. Although multifocal ERG exhibited worsening of macular function, the generalized photoreceptor function was preserved until middle age.

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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 and Takashi Sato for acquisition of retinal images.

Funding

This work was supported in part by JSPS KAKENHI Grant Number 21K09756 to T.H.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Toho University Ohashi Medical Center, Tokyo, Japan

    Nobuko Enomoto, Remi Takeuchi & Goji Tomita

  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, The Jikei University School of Medicine, Tokyo, Japan

    Takaaki Hayashi

  4. Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan

    Tomokazu Matsuura

  5. Department of Ophthalmology, Nihon University School of Medicine, Tokyo, Japan

    Koji Tanaka & Ryusaburo Mori

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  1. Nobuko Enomoto
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Correspondence to Takaaki Hayashi.

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Enomoto, N., Hayashi, T., Matsuura, T. et al. The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy. Doc Ophthalmol 144, 67–75 (2022). https://doi.org/10.1007/s10633-021-09859-3

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  • DOI: https://doi.org/10.1007/s10633-021-09859-3

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