{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T07:21:12Z","timestamp":1773213672423,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T00:00:00Z","timestamp":1631145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T00:00:00Z","timestamp":1631145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G&gt;A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a variant of c.2192G&gt;A in exon 18 and c.1670G&gt;A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the PDE6C gene that leads to ACHM.<\/jats:p>","DOI":"10.1159\/000512284","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T17:01:28Z","timestamp":1631206888000},"page":"749-760","source":"Crossref","is-referenced-by-count":3,"title":["Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia"],"prefix":"10.1159","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9520-5054","authenticated-orcid":false,"given":"Carolina","family":"Madeira","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5303-0025","authenticated-orcid":false,"given":"Gon\u00e7alo","family":"Godinho","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[]},{"given":"Manuel","family":"Falc\u00e3o","sequence":"additional","affiliation":[]},{"given":"Renato","family":"Silva","sequence":"additional","affiliation":[]},{"given":"\u00c2ngela","family":"Carneiro","sequence":"additional","affiliation":[]},{"given":"Elisete","family":"Brand\u00e3o","sequence":"additional","affiliation":[]},{"given":"Augusto","family":"Magalh\u00e3es","sequence":"additional","affiliation":[]},{"given":"Fernando","family":"Falc\u00e3o-Reis","sequence":"additional","affiliation":[]},{"given":"S\u00e9rgio","family":"Estrela-Silva","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2021,9,9]]},"updated-by":[{"DOI":"10.1159\/000528841","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T00:00:00Z","timestamp":1631145600000}}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cop\/article-pdf\/12\/3\/749\/4020516\/000512284.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cop\/article-pdf\/12\/3\/749\/4020516\/000512284.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:15:51Z","timestamp":1745410551000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000512284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,9]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,1,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000512284","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.1159\/000528841","asserted-by":"object"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,9]]}}}