{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T22:04:39Z","timestamp":1782425079284,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271092"],"award-info":[{"award-number":["82271092"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      This study investigated the clinical characteristics and the genotype\u2013phenotype correlation of\n                      <jats:italic>DOCK6<\/jats:italic>\n                      \u2010associated autosomal recessive Adams\u2010Oliver Syndrome in a large cohort of familial exudative vitreoretinopathy patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Comprehensive ocular examinations were conducted on probands and their family members. Whole\u2010exome sequencing (WES) was performed on the probands, with Sanger sequencing validation for family members. In\u00a0vitro experiments validated copy number variation (CNV) and splice\u2010site mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 642 families with FEVR phenotypes were included, leading to the identification of seven probands with biallelic pathogenic\n                      <jats:italic>DOCK6<\/jats:italic>\n                      mutations, corresponding to a prevalence of 1.09%. Thirteen mutation sites were identified, including seven frameshift mutations, four splice mutations, one CNV, and one nonsense mutation, indicating the pathogenic mechanism of\n                      <jats:italic>DOCK6<\/jats:italic>\n                      in FEVR is more likely due to functional loss. Among the 14 eyes of the seven probands, five eyes (35.71%) and four eyes (28.57%) exhibited total retinal detachment and retinal folds, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Biallelic\n                      <jats:italic>DOCK6<\/jats:italic>\n                      mutations represent a genetic cause of FEVR. These pathogenic mutations typically result in loss of function, leading to severe ocular and systemic manifestations. These findings highlight the importance of considering\n                      <jats:italic>DOCK6<\/jats:italic>\n                      mutations in patients presenting with atypical or severe FEVR phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ceo.14594","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:20:08Z","timestamp":1753860008000},"page":"1181-1190","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Familial Exudative Vitreoretinopathy\u2010Like Retinal Findings in Adams\u2010Oliver Syndrome Type 2"],"prefix":"10.1111","volume":"53","author":[{"given":"You","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Sichuan Provincial People's Hospital University of Electronic Science and Technology of China  Chengdu 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