{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:26:14Z","timestamp":1787765174848,"version":"build-2784847793"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>PURPOSE:<\/jats:title>\n                    <jats:p>Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.g. cyclic nucleotide-gated channel subunit alpha 3 [CNGA3] and activating transcription factor 6). Studies have assessed the role of gene therapy in achromatopsia. Therefore, for treatment and prevention, the identification of phenotypes and genotypes is crucial. Here, we described the clinical manifestations and genetic mutations associated with achromatopsia in patients from Saudi Arabia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>This case series study included 15 patients with clinical presentations, suggestive of achromatopsia, who underwent ophthalmological and systemic evaluations. Patients with typical achromatopsia phenotype underwent genetic evaluation using whole-exome testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>\n                      All patients had nystagmus (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 15) and 93.3% had photophobia (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 14). In addition, all patients (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 15) had poor VA. Hyperopia with astigmatism was observed in 93.3% (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 14) and complete color blindness in 93.3% of the patients (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 14). In the context of family history, both parents of all patients (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 15) were genetic carriers, with a high consanguinity rate (82%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 9 families). Electroretinography showed cone dysfunction with normal rods in 66.7% (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 10) and both cone\u2013rod dysfunction in 33.3% (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 5) patients. Regarding the genotypic features, 93% of patients had variants in\n                      <jats:italic toggle=\"yes\">CNGA3<\/jats:italic>\n                      (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 14) categorized as pathogenic Class 1 (86.7%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 13). Further, 66.7% (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 10) of patients also harbored the c.661C&gt;T DNA variant. Further, the patients were homozygous for these mutations. Three other variants were also identified: c.1768G&gt;A (13.3%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 2), c.830G&gt;A (6.6%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 1), and c. 822G &gt;T (6.6%,\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 1).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSION:<\/jats:title>\n                    <jats:p>\n                      Consanguinity and belonging to the same tribe are major risk factors for disease inheritance. The most common genotype was\n                      <jats:italic toggle=\"yes\">CNGA3<\/jats:italic>\n                      with the c.661C&gt;T DNA variant. We recommend raising awareness among families and providing genetic counseling for this highly debilitating disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/sjopt.sjopt_108_23","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T14:02:01Z","timestamp":1704981721000},"page":"301-306","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series"],"prefix":"10.4103","volume":"37","author":[{"given":"Enam","family":"Danish","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Alhashem","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reham","family":"Aljehani","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, King Abdulaziz University, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anan","family":"Aljawi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, King Abdulaziz Medical City, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manar M.","family":"Aldarwish","sequence":"additional","affiliation":[{"name":"Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuad","family":"Al Mutairi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia"},{"name":"King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia"},{"name":"Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad T.","family":"Alrifai","sequence":"additional","affiliation":[{"name":"King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia"},{"name":"Pediatric Ophthalmology Division, Department of Pediatric Surgery, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saif","family":"Alobaisi","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology Division, Department of Pediatric Surgery, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi 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