{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T11:19:04Z","timestamp":1784027944475,"version":"3.55.0"},"reference-count":65,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T00:00:00Z","timestamp":1648512000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fighting Blindness","award":["FBMMUH20"],"award-info":[{"award-number":["FBMMUH20"]}]},{"name":"Fighting Blindness","award":["FBMMUH21"],"award-info":[{"award-number":["FBMMUH21"]}]},{"name":"Novartis Ireland","award":["none"],"award-info":[{"award-number":["none"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and\/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a \u201ctelegenetics\u201d approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic\/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland.<\/jats:p>","DOI":"10.3390\/genes13040615","type":"journal-article","created":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T21:44:52Z","timestamp":1648590292000},"page":"615","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population"],"prefix":"10.3390","volume":"13","author":[{"given":"Julia","family":"Zhu","sequence":"first","affiliation":[{"name":"Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7462-7725","authenticated-orcid":false,"given":"Kirk A. J.","family":"Stephenson","sequence":"additional","affiliation":[{"name":"Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"},{"name":"Ophthalmology Department, Children\u2019s University Hospital, Temple Street, D01 XD99 Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3423-2542","authenticated-orcid":false,"given":"Adrian","family":"Dockery","sequence":"additional","affiliation":[{"name":"Next Generation Sequencing Laboratory, Pathology Department, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Turner","sequence":"additional","affiliation":[{"name":"Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"O\u2019Byrne","sequence":"additional","affiliation":[{"name":"Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Fitzsimon","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Children\u2019s University Hospital, Temple Street, D01 XD99 Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Jane","family":"Farrar","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, D02 PN40 Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Ian","family":"Flitcroft","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Children\u2019s University Hospital, Temple Street, D01 XD99 Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland"},{"name":"Ophthalmology Department, Children\u2019s University Hospital, Temple Street, D01 XD99 Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/S2352-4642(20)30366-7","article-title":"Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): A national observational study","volume":"5","author":"Teoh","year":"2021","journal-title":"Lancet Child Adolesc. 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