{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:48:20Z","timestamp":1787755700329,"version":"build-2784847793"},"reference-count":57,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"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"],"abstract":"<jats:p>Gene therapy is an increasingly useful treatment option, especially in children, where most inherited diseases manifest. This review provides a literature synthesis of current gene therapy treatments in pediatric ophthalmology. Our search encompassed the ClinicalTrials.gov database. Sixteen clinical trials with published results reporting gene therapy for genetic ocular diseases in children (under 18 years) were included. Diseases under investigation for gene therapy in children included Leber's Congenital Amaurosis (CEP290, RPE65 genes), Leber's Hereditary Optic Neuropathy (ND4), Retinitis Pigmentosa (MERTK), Usher Syndrome Type 2 (USH2A), X-linked Retinitis Pigmentosa (RPGR), Achromatopsia (CNGA3, CNGB3), and X-linked Retinoschisis (RS1). Most clinical trials in our search were in Phases 1 or 2, with five studies having progressed to Phase 3. In certain cases, treatment demonstrated encouraging results, providing the patients with an improvement in BCVA, retinal sensitivity, and quality of life. However, the outcome measures regarding the efficacy and tolerability of gene therapy varied and some studies noted adverse events. Clinical trials that have yet to publish their results were also recorded. While the field of pediatric ophthalmology shows promise for gene therapy options, future strategies should include stratified enrollment based on age, separate cohorts for pediatric and adult patients, or adaptive trial designs.<\/jats:p>","DOI":"10.1177\/11206721261478166","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T14:58:28Z","timestamp":1787324308000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Gene therapy clinical trials for inherited eye diseases: The pediatric perspective"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7706-4654","authenticated-orcid":false,"given":"Athanasia","family":"Sandali","sequence":"first","affiliation":[{"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9698-622X","authenticated-orcid":false,"given":"Anna","family":"Nikolaidou","sequence":"additional","affiliation":[{"name":"University of T\u00fcbingen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5131-9894","authenticated-orcid":false,"given":"Theodora","family":"Gianni","sequence":"additional","affiliation":[{"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zacharenia","family":"Tsoukala","sequence":"additional","affiliation":[{"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Tsinopoulos","sequence":"additional","affiliation":[{"name":"Aristotle University of Thessaloniki"},{"name":"Aristotle University of Thessaloniki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lampros","family":"Lamprogiannis","sequence":"additional","affiliation":[{"name":"Aristotle University of Thessaloniki"},{"name":"Department of Pediatric Ophthalmology and Strabismus, Ophthalmica Institute of Ophthalmology &amp; Microsurgery, Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509337480"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3389\/fopht.2023.1188522"},{"key":"e_1_3_2_4_2","unstructured":"Approved Cellular and Gene Therapy Products. FDA https:\/\/www.fda.gov\/vaccines-blood-biologics\/cellular-gene-therapy-products\/approved-cellular-and-gene-therapy-products (accessed 28 September 2024)."},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.4103\/singaporemedj.SMJ-2021-376"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.29533"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S364200"},{"key":"e_1_3_2_8_2","unstructured":"Center for Biologics Evaluation and Research. Human Gene Therapy for Retinal Disorders https:\/\/www.fda.gov\/regulatory-information\/search-fda-guidance-documents\/human-gene-therapy-retinal-disorders (accessed 12 November 2024)."},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2023.03.035"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31868-8"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081261"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2016-309975"},{"key":"e_1_3_2_13_2","unstructured":"Home - OMIM. https:\/\/www.omim.org\/ (accessed 22 October 2024)."},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000003133"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-01755-w"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/mtna.2012.3"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2021.108761"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2020.11.029"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2018.014"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2011.298"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.11.048"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1414221"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.03.003"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2017.09.014"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1304-1"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.162"},{"key":"e_1_3_2_27_2","volume-title":"StatPearls","author":"Shemesh A","unstructured":"Shemesh A, Sood G, Blair K, et al. Leber Hereditary Optic Neuropathy (LHON) StatPearls. Treasure Island, Florida, United States: StatPearls Publishing, 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482499\/ (accessed 29 October 2024)."},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep21587"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15388"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2022.02.023"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000001367"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaz7423"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2020.12.012"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-7506-4063-3.50040-9"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1637-y"},{"key":"e_1_3_2_36_2","unstructured":"MERTK MER proto-oncogene tyrosine kinase [Homo sapiens (human)] - Gene - NCBI https:\/\/www.ncbi.nlm.nih.gov\/gene\/10461 (accessed 23 November 2024)."},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1097\/APO.0000000000000546"},{"key":"e_1_3_2_38_2","volume-title":"GeneReviews\u00ae","author":"Koenekoop R","unstructured":"Koenekoop R, Arriaga M, Trzupek KM, et al. Usher Syndrome Type II. In: Adam MP, Feldman J, Mirzaa GM (eds) GeneReviews\u00ae. Seattle, WA, United States: University of Washington, 1999, updated 2023. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1341\/ (accessed 28 November 2024)."},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2024.05.034"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes10090674"},{"key":"e_1_3_2_41_2","volume-title":"GeneReviews\u00ae","author":"Kohl S","unstructured":"Kohl S, J\u00e4gle H, Wissinger B, et al. Achromatopsia. In: Adam MP, Feldman J, Mirzaa GM (eds) GeneReviews\u00ae. Seattle, WA, United States: University of Washington, 2004, updated 2018. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1418\/ (accessed 23 November 2024)."},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2023.05.009"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2022.06.013"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2011.12.002"},{"key":"e_1_3_2_45_2","volume-title":"GeneReviews\u00ae","author":"Sieving PA","unstructured":"Sieving PA, MacDonald IM, Hoang S. X-Linked Congenital Retinoschisis. In: Adam MP, Feldman J, Mirzaa GM (eds) GeneReviews\u00ae. Seattle, WA, United States: University of Washington, 2003, updated 2020. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1222\/ (accessed 29 October 2024)."},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40123-020-00287-1"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01245-3"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2024.1382190"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1167\/tvst.12.11.24"},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000290"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1080\/03007995.2023.2257600"},{"key":"e_1_3_2_52_2","doi-asserted-by":"publisher","DOI":"10.3390\/bioengineering12101122"},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2009.210"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6702332"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11101279"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTO.S372001"},{"key":"e_1_3_2_57_2","doi-asserted-by":"publisher","DOI":"10.3928\/0191-3913-19950301-07"},{"key":"e_1_3_2_58_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-50555-y"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721261478166","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721261478166","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721261478166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:47:58Z","timestamp":1787752078000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721261478166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,21]]},"references-count":57,"alternative-id":["10.1177\/11206721261478166"],"URL":"https:\/\/doi.org\/10.1177\/11206721261478166","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,21]]},"article-number":"11206721261478166"}}