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Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene\u2010specific therapies. These guidelines recommend genetic testing in all IRD patients and provide a detailed assessment of available testing methods, ensuring that genetic counselling is integrated into ophthalmic care. Essential to this process is the inclusion of at least one genetic counselling session to effectively communicate and discuss implications of test results with patients and families\/carers. Key recommendations include cascade testing to identify at\u2010risk family members and standardisation of variant classification according to international criteria to ensure consistency in diagnosis and care. Ophthalmological follow\u2010up is generally prescribed at intervals of 1\u20132\u2009years for adults and 6\u2009months for paediatric patients, to monitor disease progression and complications. Paediatric considerations are addressed, reflecting the complexities and ethical concerns associated with testing minors. These guidelines aim to elevate diagnostic accuracy, guide therapeutic decisions and ultimately improve patient outcomes, marking a significant advance in the genetic management of IRDs.<\/jats:p>","DOI":"10.1111\/cge.14691","type":"journal-article","created":{"date-parts":[[2025,1,2]],"date-time":"2025-01-02T12:38:59Z","timestamp":1735821539000},"page":"600-611","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"first","affiliation":[{"name":"Departament of Ophthalmology Hospitais da Universidade de Coimbra (HUC), Unidade Local de Sa\u00fade (ULS) Coimbra, E.P.E.  Coimbra Portugal"},{"name":"Clinical and Academic Centre of Coimbra (CACC)  Coimbra Portugal"},{"name":"Cl\u00ednica Universit\u00e1ria de Oftalmologia, Faculdade de Medicina Universidade de Coimbra (FMUC)  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0091","authenticated-orcid":false,"given":"C\u00e9lia Azevedo","family":"Soares","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Centro de Gen\u00e9tica M\u00e9dica Dr. Jacinto Magalh\u00e3es, Unidade Local de Sa\u00fade (ULS) Sto Ant\u00f3nio, E.P.E.  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