{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:32:45Z","timestamp":1787841165720,"version":"build-2784847793"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To report a rare case of uveal melanoma (UM) and Von Hippel\u2013Lindau (VHL) syndrome in a patient who underwent whole exome sequencing (WES) to identify the possible genetic cause of the disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A 54-year-old patient was referred to the eye clinic at the Rassoul Akram Hospital in 2016 due to complaints of blurry vision. In addition to UM, he later developed retinal capillary hemangioblastomas in his eye and a central nervous system hemangioblastoma. Proband had a family history of prostate cancer, breast cancer, skin cancer, and acute myeloid leukemia. After analyzing the Sanger sequencing and multiplex ligation-dependent probe amplification of the VHL genes, no mutations were found, leading to the decision to perform WES.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      WES disclosed a heterozygous known pathogenic nonsense variant\n                      <jats:italic toggle=\"yes\">:<\/jats:italic>\n                      c.274C&gt;T (p.Arg92*) in exon 3 of gene\n                      <jats:italic toggle=\"yes\">FCGR1A<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Our examination indicated that\n                      <jats:italic toggle=\"yes\">FCGR1A<\/jats:italic>\n                      : c.274C&gt;T (p.Arg92*) may have contributed to the co-occurrence of UM and VHL disease. In the future,\n                      <jats:italic toggle=\"yes\">FCGR1A<\/jats:italic>\n                      could be a promising therapeutic approach for retinal cancer due to its role in several cancers and retinal degeneration. To gain a better understanding of its pathogenesis mechanism, it is recommended to conduct functional analysis using appropriate animal models before using the variant in genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/joco.joco_145_24","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T22:02:45Z","timestamp":1758232965000},"page":"457-461","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel\u2013Lindau Syndrome: A Rare Case Report"],"prefix":"10.4103","volume":"36","author":[{"given":"Fatemeh","family":"Azimi","sequence":"first","affiliation":[{"name":"Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Golnaz","family":"Khakpour","sequence":"additional","affiliation":[{"name":"Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran"},{"name":"Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahad","family":"Sedaghat","sequence":"additional","affiliation":[{"name":"Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Mostafaiee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Mirshahi","sequence":"additional","affiliation":[{"name":"Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masood","family":"Naseripour","sequence":"additional","affiliation":[{"name":"Eye Research Center, The Five Senses Institute, Iran University of Medical Sciences, Tehran, Iran"},{"name":"Finetech in Medicine Research Center, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"key":"R1-20250918","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/B978-0-444-62702-5.00010-X","article-title":"Von Hippel-Lindau disease","volume":"132","author":"Chittiboina","year":"2015","journal-title":"Handb Clin Neurol"},{"key":"R2-20250918","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/00005792-199711000-00001","article-title":"Von Hippel-Lindau disease","volume":"76","author":"Maher","year":"1997","journal-title":"Medicine (Baltimore)"},{"key":"R3-20250918","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1046\/j.1365-2796.1998.00338.x","article-title":"The eye in von Hippel-Lindau disease. 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