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In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant

  • Clinical Investigation
  • Published:
Japanese Journal of Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. The purpose of this study was to analyze the cone mosaic of another case of GNAT2-associated ACHM.

Patient and methods

The patient was a 17-year-old Japanese boy. Comprehensive ocular examinations including fundus photography, electroretinography (ERGs), optical coherence tomography (OCT), and whole-exome analysis were performed. The cone mosaic was recorded with a flood-illuminated AO fundus camera, and the cone density was compared with those of 10 normal control eyes.

Results

The patient had the typical phenotype of ACHM, and a novel homozygous variant, c.730_743del, in GNAT2 was identified. The fundus did not show any specific abnormalities, and the OCT images showed the presence of the ellipsoid zone. The AO fundus image showed a clearly defined cone mosaic around the fovea. The cone density at 500 μm from the fovea was reduced by 15–30 % as compared with those of the normal eyes.

Conclusions

This is the first description of a Japanese patient with ACHM with a novel GNAT2 variant. The eyes of this patient had a preserved cone structure with loss of function.

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Acknowledgments

We thank Professor Duco Hamasaki of the Bascom Palmer Eye Institute for discussions and for editing the final version of the manuscript. This work was supported in part by a Scientific Research C Grant (25462709 SU) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.

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Authors and Affiliations

  1. Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsuruma-cho, Showa-ku, Nagoya, 466-8550, Japan

    Shinji Ueno, Ayami Nakanishi, Taro Kominami, Yasuki Ito & Hiroko Terasaki

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

    Takaaki Hayashi

  3. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Kazutoshi Yoshitake, Yuichi Kawamura, Kazushige Tsunoda & Takeshi Iwata

Authors
  1. Shinji Ueno
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  2. Ayami Nakanishi
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  3. Taro Kominami
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  4. Yasuki Ito
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  5. Takaaki Hayashi
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  6. Kazutoshi Yoshitake
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  7. Yuichi Kawamura
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  8. Kazushige Tsunoda
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  9. Takeshi Iwata
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  10. Hiroko Terasaki
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Corresponding author

Correspondence to Shinji Ueno.

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Conflicts of interest

S. Ueno, Grants (Santen), Lecture fees (Novartis, Pfizer); A. Nakanishi, None; T. Kominami, None; Y. Ito, Lecture fees (Aichi Ophthalmologists Association, Alcon, Bayer Health Care, Canon Life Care Solutions, Carl Zeiss Meditec, Kowa, Nidek, Novartis, Okazaki City Medical Association, Pfizer, Santen); T. Hayashi, None; K. Yoshitake, None; Y. Kawamura, None; K. Tsunoda, None; T. Iwata, None; H. Terasaki, Grants (Canon, Nidek), Lecture fees (Carl Zeiss Meditec, Nidek).

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Ueno, S., Nakanishi, A., Kominami, T. et al. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol 61, 92–98 (2017). https://doi.org/10.1007/s10384-016-0484-7

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  • DOI: https://doi.org/10.1007/s10384-016-0484-7

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