TY - JOUR
T1 - In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant
AU - Ueno, Shinji
AU - Nakanishi, Ayami
AU - Kominami, Taro
AU - Ito, Yasuki
AU - Hayashi, Takaaki
AU - Yoshitake, Kazutoshi
AU - Kawamura, Yuichi
AU - Tsunoda, Kazushige
AU - Iwata, Takeshi
AU - Terasaki, Hiroko
N1 - Funding Information:
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.
Publisher Copyright:
© 2016, Japanese Ophthalmological Society.
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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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U2 - 10.1007/s10384-016-0484-7
DO - 10.1007/s10384-016-0484-7
M3 - Article
C2 - 27718025
AN - SCOPUS:84991017523
VL - 61
SP - 92
EP - 98
JO - Japanese Journal of Ophthalmology
JF - Japanese Journal of Ophthalmology
SN - 0021-5155
IS - 1
ER -