In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant
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...
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| Veröffentlicht in: | Japanese journal of ophthalmology 2017, Vol.61 (1), p.92-98 |
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| container_title | Japanese journal of ophthalmology |
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| creator | Ueno, Shinji Nakanishi, Ayami Kominami, Taro Ito, Yasuki Hayashi, Takaaki Yoshitake, Kazutoshi Kawamura, Yuichi Tsunoda, Kazushige Iwata, Takeshi Terasaki, Hiroko |
| description | 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. |
| doi_str_mv | 10.1007/s10384-016-0484-7 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1868327937</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1835385745</sourcerecordid><originalsourceid>FETCH-LOGICAL-c473t-5134b657e78a22d7088814065cec070cf198706663418b73131f1c66b738d7003</originalsourceid><addsrcrecordid>eNqNkctOWzEQhq0KVFLoA3SDLHXTzSkzvrNECFIkVDawNo7jE4xy7GCfBPH2dZS0qipVYuWR55t_Lj8hXxC-I4A-qwjciA5QdSBaoD-QCSrkHWNCHZAJAMNOopRH5FOtzwAgGGcfyRHTGg0wOSGPN4lu4ibTOLhFTAuae-qozynQIVcXPY2pfazcGEMa6Wscn6jzTyUPbsyrGh11tWYf3Rjm-yyd_ry4Z3TjSnRpPCGHvVvW8Hn_HpOH66v7yx_d7d305vLitvNC87FNycVMSR20cYzNNRhjUICSPnjQ4Hs8NxqUUlygmWmOHHv0SrXQNBr4Mfm2012V_LIOdbRDrD4sly6FvK4WjTKc6XOu34FyyY3UQjb06z_oc16X1BZplJRMK222vXFH-ZJrLaG3q9LuWd4sgt06ZXdO2eaU3Tplt0Oc7pXXsyHM_1T8tqYBbAfUlkqLUP5q_V_VX5Yumhw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1855276780</pqid></control><display><type>article</type><title>In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant</title><source>MEDLINE</source><source>Springer Journals</source><creator>Ueno, Shinji ; Nakanishi, Ayami ; Kominami, Taro ; Ito, Yasuki ; Hayashi, Takaaki ; Yoshitake, Kazutoshi ; Kawamura, Yuichi ; Tsunoda, Kazushige ; Iwata, Takeshi ; Terasaki, Hiroko</creator><creatorcontrib>Ueno, Shinji ; Nakanishi, Ayami ; Kominami, Taro ; Ito, Yasuki ; Hayashi, Takaaki ; Yoshitake, Kazutoshi ; Kawamura, Yuichi ; Tsunoda, Kazushige ; Iwata, Takeshi ; Terasaki, Hiroko</creatorcontrib><description>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.</description><identifier>ISSN: 0021-5155</identifier><identifier>EISSN: 1613-2246</identifier><identifier>DOI: 10.1007/s10384-016-0484-7</identifier><identifier>PMID: 27718025</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Adolescent ; Clinical Investigation ; Color Vision Defects - diagnosis ; Color Vision Defects - genetics ; Color Vision Defects - metabolism ; Electroretinography ; Eye Proteins - genetics ; Eye Proteins - metabolism ; Fluorescein Angiography ; Fundus Oculi ; Genetic Variation ; Humans ; Male ; Medicine ; Medicine & Public Health ; Ophthalmology ; Retinal Cone Photoreceptor Cells - cytology ; Visual Acuity ; Visual Field Tests</subject><ispartof>Japanese journal of ophthalmology, 2017, Vol.61 (1), p.92-98</ispartof><rights>Japanese Ophthalmological Society 2016</rights><rights>Japanese Journal of Ophthalmology is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c473t-5134b657e78a22d7088814065cec070cf198706663418b73131f1c66b738d7003</citedby><cites>FETCH-LOGICAL-c473t-5134b657e78a22d7088814065cec070cf198706663418b73131f1c66b738d7003</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10384-016-0484-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10384-016-0484-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27718025$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ueno, Shinji</creatorcontrib><creatorcontrib>Nakanishi, Ayami</creatorcontrib><creatorcontrib>Kominami, Taro</creatorcontrib><creatorcontrib>Ito, Yasuki</creatorcontrib><creatorcontrib>Hayashi, Takaaki</creatorcontrib><creatorcontrib>Yoshitake, Kazutoshi</creatorcontrib><creatorcontrib>Kawamura, Yuichi</creatorcontrib><creatorcontrib>Tsunoda, Kazushige</creatorcontrib><creatorcontrib>Iwata, Takeshi</creatorcontrib><creatorcontrib>Terasaki, Hiroko</creatorcontrib><title>In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant</title><title>Japanese journal of ophthalmology</title><addtitle>Jpn J Ophthalmol</addtitle><addtitle>Jpn J Ophthalmol</addtitle><description>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.</description><subject>Adolescent</subject><subject>Clinical Investigation</subject><subject>Color Vision Defects - diagnosis</subject><subject>Color Vision Defects - genetics</subject><subject>Color Vision Defects - metabolism</subject><subject>Electroretinography</subject><subject>Eye Proteins - genetics</subject><subject>Eye Proteins - metabolism</subject><subject>Fluorescein Angiography</subject><subject>Fundus Oculi</subject><subject>Genetic Variation</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Ophthalmology</subject><subject>Retinal Cone Photoreceptor Cells - cytology</subject><subject>Visual Acuity</subject><subject>Visual Field Tests</subject><issn>0021-5155</issn><issn>1613-2246</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkctOWzEQhq0KVFLoA3SDLHXTzSkzvrNECFIkVDawNo7jE4xy7GCfBPH2dZS0qipVYuWR55t_Lj8hXxC-I4A-qwjciA5QdSBaoD-QCSrkHWNCHZAJAMNOopRH5FOtzwAgGGcfyRHTGg0wOSGPN4lu4ibTOLhFTAuae-qozynQIVcXPY2pfazcGEMa6Wscn6jzTyUPbsyrGh11tWYf3Rjm-yyd_ry4Z3TjSnRpPCGHvVvW8Hn_HpOH66v7yx_d7d305vLitvNC87FNycVMSR20cYzNNRhjUICSPnjQ4Hs8NxqUUlygmWmOHHv0SrXQNBr4Mfm2012V_LIOdbRDrD4sly6FvK4WjTKc6XOu34FyyY3UQjb06z_oc16X1BZplJRMK222vXFH-ZJrLaG3q9LuWd4sgt06ZXdO2eaU3Tplt0Oc7pXXsyHM_1T8tqYBbAfUlkqLUP5q_V_VX5Yumhw</recordid><startdate>2017</startdate><enddate>2017</enddate><creator>Ueno, Shinji</creator><creator>Nakanishi, Ayami</creator><creator>Kominami, Taro</creator><creator>Ito, Yasuki</creator><creator>Hayashi, Takaaki</creator><creator>Yoshitake, Kazutoshi</creator><creator>Kawamura, Yuichi</creator><creator>Tsunoda, Kazushige</creator><creator>Iwata, Takeshi</creator><creator>Terasaki, Hiroko</creator><general>Springer Japan</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7T7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>7TK</scope></search><sort><creationdate>2017</creationdate><title>In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant</title><author>Ueno, Shinji ; Nakanishi, Ayami ; Kominami, Taro ; Ito, Yasuki ; Hayashi, Takaaki ; Yoshitake, Kazutoshi ; Kawamura, Yuichi ; Tsunoda, Kazushige ; Iwata, Takeshi ; Terasaki, Hiroko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c473t-5134b657e78a22d7088814065cec070cf198706663418b73131f1c66b738d7003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adolescent</topic><topic>Clinical Investigation</topic><topic>Color Vision Defects - diagnosis</topic><topic>Color Vision Defects - genetics</topic><topic>Color Vision Defects - metabolism</topic><topic>Electroretinography</topic><topic>Eye Proteins - genetics</topic><topic>Eye Proteins - metabolism</topic><topic>Fluorescein Angiography</topic><topic>Fundus Oculi</topic><topic>Genetic Variation</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Ophthalmology</topic><topic>Retinal Cone Photoreceptor Cells - cytology</topic><topic>Visual Acuity</topic><topic>Visual Field Tests</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ueno, Shinji</creatorcontrib><creatorcontrib>Nakanishi, Ayami</creatorcontrib><creatorcontrib>Kominami, Taro</creatorcontrib><creatorcontrib>Ito, Yasuki</creatorcontrib><creatorcontrib>Hayashi, Takaaki</creatorcontrib><creatorcontrib>Yoshitake, Kazutoshi</creatorcontrib><creatorcontrib>Kawamura, Yuichi</creatorcontrib><creatorcontrib>Tsunoda, Kazushige</creatorcontrib><creatorcontrib>Iwata, Takeshi</creatorcontrib><creatorcontrib>Terasaki, Hiroko</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Virology and AIDS Abstracts</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Japanese journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ueno, Shinji</au><au>Nakanishi, Ayami</au><au>Kominami, Taro</au><au>Ito, Yasuki</au><au>Hayashi, Takaaki</au><au>Yoshitake, Kazutoshi</au><au>Kawamura, Yuichi</au><au>Tsunoda, Kazushige</au><au>Iwata, Takeshi</au><au>Terasaki, Hiroko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant</atitle><jtitle>Japanese journal of ophthalmology</jtitle><stitle>Jpn J Ophthalmol</stitle><addtitle>Jpn J Ophthalmol</addtitle><date>2017</date><risdate>2017</risdate><volume>61</volume><issue>1</issue><spage>92</spage><epage>98</epage><pages>92-98</pages><issn>0021-5155</issn><eissn>1613-2246</eissn><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.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>27718025</pmid><doi>10.1007/s10384-016-0484-7</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0021-5155 |
| ispartof | Japanese journal of ophthalmology, 2017, Vol.61 (1), p.92-98 |
| issn | 0021-5155 1613-2246 |
| language | eng |
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| source | MEDLINE; Springer Journals |
| subjects | Adolescent Clinical Investigation Color Vision Defects - diagnosis Color Vision Defects - genetics Color Vision Defects - metabolism Electroretinography Eye Proteins - genetics Eye Proteins - metabolism Fluorescein Angiography Fundus Oculi Genetic Variation Humans Male Medicine Medicine & Public Health Ophthalmology Retinal Cone Photoreceptor Cells - cytology Visual Acuity Visual Field Tests |
| title | In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant |
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