{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T09:05:41Z","timestamp":1779959141676,"version":"3.53.1"},"reference-count":71,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background\/Objectives: Inherited retinal diseases (IRDs) represent a group of rare conditions characterized by significant clinical and genetic heterogeneity. Historically, the diagnosis of these conditions relied primarily on clinical presentation and imaging techniques. This literature review aims to discuss the current state of progress and ongoing challenges in applying precision medicine approaches to IRDs and to examine how advances in genetic testing have transformed diagnostics and opened new therapeutic avenues. Methods: This review examines the application of genetic testing methods to IRDs, with particular focus on next-generation sequencing (NGS) technologies. The review also evaluates current patient selection protocols that combine genetic confirmation, retinal structural evaluation, and detailed genetic counselling to achieve optimal therapeutic outcomes. Results: The implementation of NGS has significantly enhanced diagnostic capabilities for IRDs by enabling precise identification of specific genetic mutations. This advancement has paved the way for targeted therapeutic strategies, exemplified by Luxturna for RPE65-related IRDs. However, several barriers to broader adoption of precision medicine persist, including high costs, varied access to services, and complexities in interpreting genetic variants. Conclusions: While the continued development of innovative therapeutic modalities offers promise for expanding treatment options for IRDs, fully harnessing the potential of current and emerging therapeutic technologies requires addressing existing economic, technological, educational, and infrastructural challenges.<\/jats:p>","DOI":"10.3390\/jpm16060292","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T08:00:36Z","timestamp":1779955236000},"page":"292","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0571-2894","authenticated-orcid":false,"given":"Thanansayan","family":"Dhivagaran","sequence":"first","affiliation":[{"name":"Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1025-4765","authenticated-orcid":false,"given":"Fahad R.","family":"Butt","sequence":"additional","affiliation":[{"name":"Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krystal","family":"Grover","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, McMaster University, Hamilton, ON L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krish","family":"Devgan","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, McMaster University, Hamilton, ON L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1548-1519","authenticated-orcid":false,"given":"Kyran","family":"Sachdeva","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varounan","family":"Dhivagaran","sequence":"additional","affiliation":[{"name":"Faculty of Sciences, McMaster University, Hamilton, ON L8S 4K1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7588-6541","authenticated-orcid":false,"given":"Fatima","family":"Abid","sequence":"additional","affiliation":[{"name":"Faculty of Science, Toronto Metropolitan University, Toronto, ON M5B 2K3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan K.","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, ON M4N 3M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5948-0331","authenticated-orcid":false,"given":"Michael","family":"Balas","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, ON M4N 3M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Dimopoulos","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Ottawa, Ottawa, ON K1H 1C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adil","family":"Bhatti","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Ottawa, Ottawa, ON K1H 1C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Ben-Yosef, T. 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