{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:34:44Z","timestamp":1792733684953,"version":"4.5.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Leber hereditary optic neuropathy (LHON) is an inherited progressive optic neuropathy usually caused by mitochondrial DNA mutations. Recently, autosomal recessive (arLHON), which is caused by biallelic mutations in the\n                      <jats:italic toggle=\"yes\">DNAJC30<\/jats:italic>\n                      gene (usually c.152A\u2009&gt;\u2009G), has been described. The onset of LHON before the age of 12 is uncommon and it is typically associated with a more variable clinical course and a more favorable visual prognosis than adult-onset LHON.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Detailed clinical findings of a female child with vision loss due to arLHON together with choroideremia (CHM) carrier state are presented.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Genetic testing for the three most common mitochondrial LHON pathogenic variants was negative. On suspicion of arLHON, genetic testing was continued with the next-generation sequencing (NGS) of the nuclear DNA, identifying a homozygous pathogenic variant in\n                      <jats:italic toggle=\"yes\">DNAJC3\u00b0<\/jats:italic>\n                      c.152A\u2009&gt;\u2009G, p.(Tyr51Cys), but no alterations in the\n                      <jats:italic toggle=\"yes\">CHM<\/jats:italic>\n                      gene. Idebenone treatment was started 4.5 months after the first evaluation. Clinical diagnosis of the CHM carrier state was confirmed by multiplex ligation-dependent probe amplification (MLPA) assay, which revealed a heterozygous deletion of all exons of the\n                      <jats:italic toggle=\"yes\">CHM<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      In children with acute or subacute, simultaneous, or sequential vision loss that is unresponsive to immunomodulatory treatment, LHON should be considered as a possible diagnosis. Our case emphasizes the diagnostic advantage of sequencing\n                      <jats:italic toggle=\"yes\">DNAJC30<\/jats:italic>\n                      in parallel with the mitochondrial DNA, especially in Eastern European descent patients. Genomic rearrangement testing should be considered for patients with a CHM carrier phenotype who have negative results on sequencing tests.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721241254408","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T01:31:11Z","timestamp":1715131871000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2001-8464","authenticated-orcid":false,"given":"Eva","family":"Roomets","sequence":"first","affiliation":[{"name":"Tallinn Children's Hospital, Tallinn, Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Mauring","sequence":"additional","affiliation":[{"name":"Tartu University Hospital"},{"name":"University of Tartu"},{"name":"Tartu University Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1625-2"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701591"},{"key":"e_1_3_3_4_2","article-title":"Impaired complex I repair causes recessive Leber\u2019s hereditary optic neuropathy","author":"Stenton SL","unstructured":"Stenton SL, Sheremet NL, Catarino CB, et al. Impaired complex I repair causes recessive Leber\u2019s hereditary optic neuropathy. J Clin Invest 2021; 131: e147734.","journal-title":"J Clin Invest"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac052"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001045"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2016-310072"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0592-109"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.07.032"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24174"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2017.07.006"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2022.12.014"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.121.4.577"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001023"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-307326"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241254408","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721241254408","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241254408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T18:32:55Z","timestamp":1786559575000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721241254408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,7]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1177\/11206721241254408"],"URL":"https:\/\/doi.org\/10.1177\/11206721241254408","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,7]]}}}