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Clinical and Genetic Features of Korean Patients with Achromatopsia
This multicenter study aimed to characterize Korean patients with achromatopsia. The patients' genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene pane...
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| Published in: | Genes 2023-02, Vol.14 (2), p.519 |
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| creator | Choi, Yong Je Joo, Kwangsic Lim, Hyun Taek Kim, Sung Soo Han, Jinu Woo, Se Joon |
| description | This multicenter study aimed to characterize Korean patients with achromatopsia. The patients' genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or exome sequencing was performed. The pathogenic variants of the four genes and their frequencies were identified.
and
were equally the most prevalent genes:
(N = 8, 38.1%),
(N = 8, 38.1%),
(N = 3, 14.3%), and
(N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In
-achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%;
= 0.023). In
-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%;
= 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of
variants than those of other ethnic groups. The retinal phenotypes of the
variants were more likely to be worse than those of other genes. |
| doi_str_mv | 10.3390/genes14020519 |
| format | article |
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and
were equally the most prevalent genes:
(N = 8, 38.1%),
(N = 8, 38.1%),
(N = 3, 14.3%), and
(N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In
-achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%;
= 0.023). In
-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%;
= 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of
variants than those of other ethnic groups. The retinal phenotypes of the
variants were more likely to be worse than those of other genes.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes14020519</identifier><identifier>PMID: 36833446</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Acuity ; Analysis ; Atrophy ; Color blindness ; Color Vision Defects - genetics ; Cyclic Nucleotide-Gated Cation Channels - genetics ; Development and progression ; Disease ; Gene frequency ; Genes ; Genetic aspects ; Genetic testing ; Genotype ; Genotypes ; Humans ; Minority & ethnic groups ; Patients ; Phenotype ; Phenotypes ; Photoreceptors ; Republic of Korea ; Retina ; Retrospective Studies ; Structure-function relationships ; Visual acuity</subject><ispartof>Genes, 2023-02, Vol.14 (2), p.519</ispartof><rights>COPYRIGHT 2023 MDPI AG</rights><rights>2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2023 by the authors. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c482t-9c9fa29068b68b5f57e423e87518f8e6afc1bc6858b61039dbf8f55e2c77b6e13</citedby><cites>FETCH-LOGICAL-c482t-9c9fa29068b68b5f57e423e87518f8e6afc1bc6858b61039dbf8f55e2c77b6e13</cites><orcidid>0000-0001-7615-256X ; 0000-0002-8607-6625 ; 0000-0003-3692-7169</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2779498421/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2779498421?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,74998</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36833446$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Choi, Yong Je</creatorcontrib><creatorcontrib>Joo, Kwangsic</creatorcontrib><creatorcontrib>Lim, Hyun Taek</creatorcontrib><creatorcontrib>Kim, Sung Soo</creatorcontrib><creatorcontrib>Han, Jinu</creatorcontrib><creatorcontrib>Woo, Se Joon</creatorcontrib><title>Clinical and Genetic Features of Korean Patients with Achromatopsia</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>This multicenter study aimed to characterize Korean patients with achromatopsia. The patients' genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or exome sequencing was performed. The pathogenic variants of the four genes and their frequencies were identified.
and
were equally the most prevalent genes:
(N = 8, 38.1%),
(N = 8, 38.1%),
(N = 3, 14.3%), and
(N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In
-achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%;
= 0.023). In
-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%;
= 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of
variants than those of other ethnic groups. The retinal phenotypes of the
variants were more likely to be worse than those of other genes.</description><subject>Acuity</subject><subject>Analysis</subject><subject>Atrophy</subject><subject>Color blindness</subject><subject>Color Vision Defects - genetics</subject><subject>Cyclic Nucleotide-Gated Cation Channels - genetics</subject><subject>Development and progression</subject><subject>Disease</subject><subject>Gene frequency</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic testing</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Minority & ethnic groups</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Photoreceptors</subject><subject>Republic of Korea</subject><subject>Retina</subject><subject>Retrospective Studies</subject><subject>Structure-function relationships</subject><subject>Visual acuity</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNptkc9rHCEUx6W0NCHNsdcy0Esvk_hz1EthWZqkNJAckrM47nPXMKNbnWnpfx-X_Gg2RIUnvs_76vOL0GeCTxjT-HQNEQrhmGJB9Dt0SLFkLedUvH-xP0DHpdzhOnYgFh_RAesUY5x3h2i5HEIMzg6NjavmvOpNwTVnYKc5Q2mSb36lDDY213YKEKfS_A3Tplm4TU6jndK2BPsJffB2KHD8GI_Q7dmPm-VFe3l1_nO5uGwdV3RqtdPeUo071dclvJDAKQMlBVFeQWe9I73rlKh5gple9V55IYA6KfsOCDtC3x90t3M_wsrV52Q7mG0Oo83_TLLB7Gdi2Jh1-mO0FlIwWQW-PQrk9HuGMpkxFAfDYCOkuRgqFcadwExU9Osr9C7NOdb2KiU114pT8p9a2wFMiD7Ve91O1CwkZ0QQpnZaJ29Qda5gDC5F8KGe7xW0DwUup1Iy-OceCTY7482e8ZX_8vJjnuknm9k9ndSnkw</recordid><startdate>20230218</startdate><enddate>20230218</enddate><creator>Choi, Yong Je</creator><creator>Joo, Kwangsic</creator><creator>Lim, Hyun Taek</creator><creator>Kim, Sung Soo</creator><creator>Han, Jinu</creator><creator>Woo, Se Joon</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-7615-256X</orcidid><orcidid>https://orcid.org/0000-0002-8607-6625</orcidid><orcidid>https://orcid.org/0000-0003-3692-7169</orcidid></search><sort><creationdate>20230218</creationdate><title>Clinical and Genetic Features of Korean Patients with Achromatopsia</title><author>Choi, Yong Je ; Joo, Kwangsic ; Lim, Hyun Taek ; Kim, Sung Soo ; Han, Jinu ; Woo, Se Joon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c482t-9c9fa29068b68b5f57e423e87518f8e6afc1bc6858b61039dbf8f55e2c77b6e13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Acuity</topic><topic>Analysis</topic><topic>Atrophy</topic><topic>Color blindness</topic><topic>Color Vision Defects - genetics</topic><topic>Cyclic Nucleotide-Gated Cation Channels - genetics</topic><topic>Development and progression</topic><topic>Disease</topic><topic>Gene frequency</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic testing</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Minority & ethnic groups</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Photoreceptors</topic><topic>Republic of Korea</topic><topic>Retina</topic><topic>Retrospective Studies</topic><topic>Structure-function relationships</topic><topic>Visual acuity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Choi, Yong Je</creatorcontrib><creatorcontrib>Joo, Kwangsic</creatorcontrib><creatorcontrib>Lim, Hyun Taek</creatorcontrib><creatorcontrib>Kim, Sung Soo</creatorcontrib><creatorcontrib>Han, Jinu</creatorcontrib><creatorcontrib>Woo, Se Joon</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Choi, Yong Je</au><au>Joo, Kwangsic</au><au>Lim, Hyun Taek</au><au>Kim, Sung Soo</au><au>Han, Jinu</au><au>Woo, Se Joon</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and Genetic Features of Korean Patients with Achromatopsia</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2023-02-18</date><risdate>2023</risdate><volume>14</volume><issue>2</issue><spage>519</spage><pages>519-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>This multicenter study aimed to characterize Korean patients with achromatopsia. The patients' genotypes and phenotypes were retrospectively evaluated. Twenty-one patients (with a mean age at the baseline of 10.9 years) were enrolled and followed up for a mean of 7.3 years. A targeted gene panel or exome sequencing was performed. The pathogenic variants of the four genes and their frequencies were identified.
and
were equally the most prevalent genes:
(N = 8, 38.1%),
(N = 8, 38.1%),
(N = 3, 14.3%), and
(N = 2, 9.5%). The degree of functional and structural defects varied among the patients. The patients' age exhibited no significant correlation with structural defects. During the follow-up, the visual acuity and retinal thickness did not change significantly. In
-achromatopsia patients, a proportion of patients with a normal foveal ellipsoid zone on the OCT was significantly higher than that of patients with other causative genes (62.5% vs. 16.7%;
= 0.023). In
-achromatopsia patients, the same proportion was significantly lower than that of patients with other causative genes (0% vs. 58.3%;
= 0.003). Korean patients with achromatopsia showed similar clinical features but a higher prevalence of
variants than those of other ethnic groups. The retinal phenotypes of the
variants were more likely to be worse than those of other genes.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>36833446</pmid><doi>10.3390/genes14020519</doi><orcidid>https://orcid.org/0000-0001-7615-256X</orcidid><orcidid>https://orcid.org/0000-0002-8607-6625</orcidid><orcidid>https://orcid.org/0000-0003-3692-7169</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Genes, 2023-02, Vol.14 (2), p.519 |
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| source | Publicly Available Content Database; PubMed Central |
| subjects | Acuity Analysis Atrophy Color blindness Color Vision Defects - genetics Cyclic Nucleotide-Gated Cation Channels - genetics Development and progression Disease Gene frequency Genes Genetic aspects Genetic testing Genotype Genotypes Humans Minority & ethnic groups Patients Phenotype Phenotypes Photoreceptors Republic of Korea Retina Retrospective Studies Structure-function relationships Visual acuity |
| title | Clinical and Genetic Features of Korean Patients with Achromatopsia |
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