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In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant
http://hdl.handle.net/2237/26011
http://hdl.handle.net/2237/2601105fee123-3ef9-45f0-accb-5ad4e36260e9
| アイテムタイプ | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2017-04-18 | |||||
| タイトル | ||||||
| タイトル | In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant | |||||
| 言語 | en | |||||
| 著者 |
Ueno, Shinji
× Ueno, Shinji× Nakanishi, Ayami× Kominami, Taro× Ito, Yasuki× Hayashi, Takaaki× Yoshitake, Kazutoshi× Kawamura, Yuichi× Tsunoda, Kazushige× Iwata, Takeshi× Terasaki, Hiroko |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 権利情報 | The final publication is available at Springer via http://doi.org/10.1007/s10384-016-0484-7 | |||||
| 言語 | en | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Springer | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプresource | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | journal article | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1007/s10384-016-0484-7 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0021-5155 | |||||
| 書誌情報 |
en : Japanese Journal of Ophthalmology 巻 61, 号 1, p. 92-98, 発行日 2017-01 |
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| 著者版フラグ | ||||||
| 値 | author | |||||
| URI | ||||||
| 識別子 | http://doi.org/10.1007/s10384-016-0484-7 | |||||
| 識別子タイプ | DOI | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/26011 | |||||
| 識別子タイプ | HDL | |||||
