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Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1)

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Abstract

Purpose

To report the 30-months’ course of macular dystrophy in a patient with genetically confirmed spinocerebellar ataxia type1 (SCA1).

Methods

Detailed ophthalmological examinations including best-corrected visual acuity (BCVA), perimetry, multimodal fundus imaging, and electrophysiological recordings were performed on a 52-year-old woman with SCA1. The number of CAG sequence repeats of the candidate gene was verified.

Results

The baseline decimal BCVA was 0.2 OD and 0.3 OS. Goldman perimetry showed relative central scotomas and slight enlargements of Mariotte blind spot bilaterally. Ophthalmoscopy revealed no abnormalities in the macula and optic disk. Fundus autofluorescence (FAF) showed a circular hyperautofluorescence and round-shaped hypoautofluorescence in the macula. Optical coherence tomography (OCT) showed a loss of the interdigitation zone and ellipsoid zone (EZ) in the macula. Full-field scotopic and photopic Full-field electroretinograms (ERGs) were normal, and multifocal ERGs were decreased in the central area. After 30 months, the BCVA had not changed, but the FAF showed a spark-like hypoautofluorescence in the macula. The abnormal area of the EZ had expanded toward the periphery, and the rate of EZ loss was 199.7%/year OD and 206.8%/year OS. Genetic examinations revealed an increase in the number of heterozygous CAG repeats in the ATXN1 gene, and the CAG repeat number of the mutant allele ranged from 43 to 48.

Conclusions

The full-field scotopic and photopic ERGs were normal. The mfERGs were significantly smaller in the central region. OCT demonstrated bilateral photoreceptor atrophy in the macula, and the rate of EZ loss was more rapid than in other macular dystrophies. Spark-like hypoautofluorescence appeared during the course of the disease process which might be a specific feature of SCA1-related retinopathy.

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Acknowledgements

We thank the patient for participation in this study. We thank Professor Emeritus Duco Hamasaki of the Bascom Palmer Eye Institute, University of Miami School of Medicine, Mami, FL, for discussions and editing our manuscript.

Funding

This study is supported by research grants from the Japan Agency for Medical Research and Development (AMED), the Ministry of Health, Labor and Welfare, and Japan (18ek0109282h0002 to TI) and National Hospital Organization Network Research Fund (H30-NHO-Sensory Organs-03 to KF, KT). The authors have no proprietary or commercial interest in any materials discussed in this article.

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Authors and Affiliations

  1. Department of Ophthalmology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Ayane Hirose, Kaoru Fujinami & Kazushige Tsunoda

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

    Satoshi Katagiri & Takaaki Hayashi

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

    Tomokazu Matsuura

  4. Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan

    Norihiro Nagai

  5. Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan

    Kaoru Fujinami & Kazushige Tsunoda

  6. UCL Institute of Ophthalmology, London, UK

    Kaoru Fujinami

  7. Moorfields Eye Hospital, London, UK

    Kaoru Fujinami

  8. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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  1. Ayane Hirose
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Correspondence to Kazushige Tsunoda.

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Author KT has received financial research support from Astellas and speaker honorarium from Novartis, Santen, and Senju. Other authors have no financial disclosure.

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Informed consent was obtained from the patient.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (Review Board/Ethics Committee of the National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Reference: R18-029) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Hirose, A., Katagiri, S., Hayashi, T. et al. Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1). Doc Ophthalmol 142, 87–98 (2021). https://doi.org/10.1007/s10633-020-09782-z

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