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More than 40 clinical trials have been completed or are ongoing, tackling autosomal recessive and X-linked conditions, mostly through adeno-associated viral vector delivery of a normal copy of the disease-causing gene. However, only recently has autosomal dominant (ad) disease been targeted, with the commencement of a trial for rhodopsin (<jats:italic>RHO<\/jats:italic>)-associated retinitis pigmentosa (RP), implementing antisense oligonucleotide (AON) therapy, with promising preliminary results (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT04123626\">NCT04123626<\/jats:ext-link>).<\/jats:p><jats:p>Autosomal dominant RP represents 15%\u201325% of all RP, with<jats:italic>RHO<\/jats:italic>accounting for 20%\u201330% of these cases. Autosomal dominant macular and cone-rod dystrophies (MD\/CORD) correspond to approximately 7.5% of all IRDs, and approximately 35% of all MD\/CORD cases, with the main causative gene being<jats:italic>BEST1<\/jats:italic>. Autosomal dominant IRDs are not only less frequent than recessive, but also tend to be less severe and have later onset; for example, an individual with<jats:italic>RHO<\/jats:italic>-adRP would typically become severely visually impaired at an age 2\u20133 times older than in X-linked<jats:italic>RPGR<\/jats:italic>-RP.<\/jats:p><jats:p>Gain-of-function and dominant negative aetiologies are frequently seen in the prevalent adRP genes<jats:italic>RHO<\/jats:italic>,<jats:italic>RP1<\/jats:italic>and<jats:italic>PRPF31<\/jats:italic>among others, which would not be effectively addressed by gene supplementation alone and need creative, novel approaches. Zinc fingers, RNA interference, AON, translational read-through therapy, and gene editing by clustered regularly interspaced short palindromic repeats\/Cas are some of the strategies that are currently under investigation and will be discussed here.<\/jats:p>","DOI":"10.1136\/bjo-2022-321903","type":"journal-article","created":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T17:20:10Z","timestamp":1661793610000},"page":"1223-1230","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":29,"title":["Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes"],"prefix":"10.1136","volume":"107","clinical-trial-number":[{"clinical-trial-number":"nct04123626","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04123626","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04123626","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04120883","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04285398","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04123626","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04120883","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04805658","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04545736","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct03999021","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4960-4510","authenticated-orcid":false,"given":"Malena","family":"Daich Varela","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasios","family":"Georgiadis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,8,29]]},"reference":[{"key":"2023082103501258000_107.9.1223.1","doi-asserted-by":"crossref","DOI":"10.1136\/bjophthalmol-2020-318483","article-title":"Leber congenital amaurosis\/early-onset severe retinal dystrophy: current management and clinical trials","volume":"106","author":"Daich Varela","year":"2022","journal-title":"Br J Ophthalmol"},{"key":"2023082103501258000_107.9.1223.2","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2020.100915","article-title":"Immune responses to retinal gene therapy using adeno-associated viral vectors - Implications for treatment success and safety","volume":"83","author":"Bucher","year":"2021","journal-title":"Prog Retin Eye Res"},{"key":"2023082103501258000_107.9.1223.3","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/ldy005"},{"key":"2023082103501258000_107.9.1223.4","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.7.449"},{"key":"2023082103501258000_107.9.1223.5","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.2147\/OPTH.S293381","article-title":"Descriptive study of a cohort of 488 patients with inherited retinal dystrophies","volume":"15","author":"Coco-Martin","year":"2021","journal-title":"Clin Ophthalmol"},{"key":"2023082103501258000_107.9.1223.6","article-title":"Mutation screening in genes known to be responsible for retinitis pigmentosa in 98 small Han Chinese families","volume":"7","author":"Huang","year":"2017","journal-title":"Sci Rep"},{"key":"2023082103501258000_107.9.1223.7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-12605"},{"key":"2023082103501258000_107.9.1223.8","first-page":"2217","article-title":"Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)","volume":"42","author":"Berson","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2023082103501258000_107.9.1223.9","article-title":"Genes and mutations causing autosomal dominant retinitis pigmentosa","volume":"5","author":"Daiger","year":"2014","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2023082103501258000_107.9.1223.10","doi-asserted-by":"publisher","DOI":"10.1038\/343364a0"},{"key":"2023082103501258000_107.9.1223.11","doi-asserted-by":"crossref","unstructured":"Wheway G , Douglas A , Baralle D , et al . 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