{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:38:03Z","timestamp":1791326283592,"version":"4.3.1"},"reference-count":19,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T00:00:00Z","timestamp":1700524800000},"content-version":"vor","delay-in-days":1785,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T00:00:00Z","timestamp":1700524800000},"content-version":"tdm","delay-in-days":1785,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009553","name":"Agentura Pro Zdravotnick\u00fd V\u00fdzkum \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["16-31932A"],"award-info":[{"award-number":["16-31932A"]}],"id":[{"id":"10.13039\/501100009553","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO-VFN 64165"],"award-info":[{"award-number":["RVO-VFN 64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["260367\/2017"],"award-info":[{"award-number":["260367\/2017"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE 204064"],"award-info":[{"award-number":["UNCE 204064"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["Progres Q26\/LF1"],"award-info":[{"award-number":["Progres Q26\/LF1"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>\n                    Steroid 5\u03b1-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental delay, cerebellar ataxia and ocular symptoms; typically, nystagmus and optic disc pallor. Recently, early onset retinal dystrophy has been reported as an additional feature. In this study, we summarize ocular phenotypes and\n                    <jats:italic>SRD5A3<\/jats:italic>\n                    variants reported to be associated with SRD5A3-CDG. We also describe in detail the ophthalmic findings in a 12-year-old Czech child harbouring a novel homozygous variant, c.436G&gt;A, p.(Glu146Lys) in\n                    <jats:italic>SRD5A3<\/jats:italic>\n                    . The patient was reviewed for congenital nystagmus and bilateral optic neuropathy diagnosed at 13 months of age. Examination by spectral domain optical coherence tomography and fundus autofluorescence imaging showed clear signs of retinal dystrophy not recognized until our investigation. Best corrected visual acuity was decreased to 0.15 and 0.16 in the right and left eye, respectively, with a myopic refractive error of \u20133.0 dioptre sphere (DS) \/ \u20132.5 dioptre cylinder (DC) in the right and \u20133.0 DS \/ \u20133.0 DC in the left eye. The proband also had optic head nerve drusen, which have not been previously observed in this syndrome.\n                  <\/jats:p>","DOI":"10.14712\/fb2019065030134","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T11:31:17Z","timestamp":1700566277000},"page":"134-141","source":"Crossref","is-referenced-by-count":18,"title":["Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5\u03b1-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case"],"prefix":"10.14712","volume":"65","author":[{"given":"B.","family":"Kousal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Honz\u00edk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hans\u00edkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ondru\u0161kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"\u010cechov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tesa\u0159ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Str\u00e1neck\u00fd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Meli\u0161ka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Li\u0161kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2023,11,21]]},"reference":[{"key":"fb2019065030134_1","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1002\/ajmg.a.32114","volume":"146A","author":"Al-Gazali","year":"2008","journal-title":"Am. 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