{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T22:25:59Z","timestamp":1779143159183,"version":"3.51.4"},"reference-count":88,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Internal funding from the Research Department, King Khaled Eye Specialist Hospital, Riyadh and the Department of Surgery, Faculty of Medicine, University of Tabuk, Tabuk supported this work.","award":["Not Applicable"],"award-info":[{"award-number":["Not Applicable"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia\u2019s healthcare system.<\/jats:p>","DOI":"10.3390\/genes16070848","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T10:35:31Z","timestamp":1753094131000},"page":"848","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2355-4036","authenticated-orcid":false,"given":"Mariam M.","family":"AlEissa","sequence":"first","affiliation":[{"name":"Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia"},{"name":"College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia"},{"name":"Public Health Laboratory, Public Health Authority, Riyadh 12382, Saudi Arabia"},{"name":"The Computational Sciences Department at the Centre for Genomic Medicine (CGM), King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abrar A.","family":"Alhawsawi","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Department of Surgery, College of Medicine, University of Jeddah, Jeddah 23218, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7424-3409","authenticated-orcid":false,"given":"Doaa","family":"Milibari","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, King Abdullah Medical City, Makkah 24211, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1747-0928","authenticated-orcid":false,"given":"Patrik","family":"Schatz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Clinical Sciences, Skane University Hospital, Lund University, 221 85 Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hani B.","family":"AlBalawi","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Department of Surgery, Faculty of Medicine, University of Tabuk, Tabuk 47311, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8860-543X","authenticated-orcid":false,"given":"Naif M.","family":"Alali","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Department of Surgery, Faculty of Medicine, University of Tabuk, Tabuk 47311, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled K.","family":"Abu-Amero","sequence":"additional","affiliation":[{"name":"Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2746-0784","authenticated-orcid":false,"given":"Syed","family":"Hameed","sequence":"additional","affiliation":[{"name":"Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moustafa S.","family":"Magliyah","sequence":"additional","affiliation":[{"name":"Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia"},{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Al Eissa, M.M., Almsned, F., Alkharji, R.R., Aldossary, Y.M., AlQurashi, R., Hawsa, E.A., AlDosari, S.M., Alqahtani, A.S., Alotibi, R.S., and Farzan, R. 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