{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:44:00Z","timestamp":1787028240614,"version":"build-2736575974"},"reference-count":54,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,27]],"date-time":"2025-07-27T00:00:00Z","timestamp":1753574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Melbourne Research Fellowship","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"Annemarie Mankiewicz-Zelkin Fellowship","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Centre for Eye Research Australia Strategic Grant","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"Angior Family Foundation","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"CASS Foundation","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"Novartis Pharmaceuticals Corporation","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"Novartis Vision Genome or Invitae (now Labcorp. Inc.)","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. Methods: A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing underwent commercial panel-based sequencing (Invitae or Blueprint Genetics), clinical assessment, and multimodal imaging. Retinal images were graded using the Human Phenotype Ontology terms. Binary logistic regression was used to evaluate clinical predictors of a positive molecular diagnosis. Results: Among 140 participants (mean age 49 \u00b1 19 years), genetic testing was undertaken, on average, 23 \u00b1 17 years after the initial clinical IRD diagnosis. Of the 60% who received a probable molecular diagnosis, 40% require further phase testing, highlighting the limitations of singleton genetic testing. USH2A, ABCA4, and RPGR were the most common encountered genes; 67% of the probably solved participants had causative genes with targeted experimental treatments in ongoing human clinical trials. Symptom onset before the age of 30 (OR = 3.06 [95% CI: 1.34\u20137.18]) and a positive IRD family history (OR = 2.87 [95% CI: 1.27\u20136.78]) were each associated with higher odds of receiving a molecular diagnosis. Diagnostic rates were comparable across retinal imaging phenotypes (atrophy and autofluorescence patterns in widespread IRD, and the extent of dystrophy in macular IRDs). Conclusions: In an Australian IRD population without prior genetic testing, commercial panels yielded higher diagnostic rates in individuals with IRD onset before the age of 30 and those with an IRD family history. Further research is needed to understand the genetic basis of IRDs, especially isolated and late-onset cases, to improve diagnosis and access to emerging therapies.<\/jats:p>","DOI":"10.3390\/genes16080888","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T14:50:03Z","timestamp":1753714203000},"page":"888","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1101-2870","authenticated-orcid":false,"given":"Alexis Ceecee","family":"Britten-Jones","sequence":"first","affiliation":[{"name":"Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Department of Surgery (Ophthalmology), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron G.","family":"Hickey","sequence":"additional","affiliation":[{"name":"Department of Surgery (Ophthalmology), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Edwards","sequence":"additional","affiliation":[{"name":"Department of Surgery (Ophthalmology), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N.","family":"Ayton","sequence":"additional","affiliation":[{"name":"Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Department of Surgery (Ophthalmology), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville 3010, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/13816810.2021.1913610","article-title":"Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia","volume":"42","author":"Mukhtar","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"004015","DOI":"10.1136\/bmjopen-2013-004015","article-title":"A comparison of the causes of blindness certifications in England and Wales in working age adults (16\u201364\u2005years), 1999\u20132000 with 2009\u20132010","volume":"4","author":"Liew","year":"2014","journal-title":"BMJ Open"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","article-title":"Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease","volume":"124","author":"Stone","year":"2017","journal-title":"Ophthalmology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1007\/s00439-021-02343-7","article-title":"NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases","volume":"140","year":"2021","journal-title":"Hum. 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