{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:08:13Z","timestamp":1780916893650,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7184236"],"award-info":[{"award-number":["7184236"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873687"],"award-info":[{"award-number":["81873687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005150","name":"Chinese Academy of Medical Sciences","doi-asserted-by":"publisher","award":["CIFMS 2016\u201012M\u20101\u2010002"],"award-info":[{"award-number":["CIFMS 2016\u201012M\u20101\u2010002"]}],"id":[{"id":"10.13039\/501100005150","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Retinocytoma is a rare benign retinal tumor associated with variants in the\n                      <jats:italic>RB1<\/jats:italic>\n                      gene. Ophthalmoscopic features can include a translucent retinal mass, calcification, retinal pigment epithelial alteration and chorioretinal atrophy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Detailed ophthalmological examinations were performed in a Chinese patient with retinocytoma and his daughter with bilateral retinoblastoma. Sanger sequencing was performed to detect\n                      <jats:italic>RB1<\/jats:italic>\n                      genetic variants in the patient, his daughter and tumor tissue from his daughter.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A 33\u2010year\u2010old man presented with poor vision and strabismus in the right eye since childhood. Fundus examination revealed a round yellow\u2010white lesion stretching from the nasal side of the optic disc to the temporal periphery of the right eye. Sequencing result identified a reported variant (c.658C&gt;G, p.Leu220Val) in the\n                      <jats:italic>RB1<\/jats:italic>\n                      gene (NM_000321.2) of DNA extracted from peripheral blood of the patient and his daughter. The missense variant was also found in the tumor tissue from his daughter.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We report detailed clinical features and genetic analysis of a case with unilateral retinocytoma. Retinocytoma has a wide range of clinical phenotypes; genetic testing is therefore a useful tool for the diagnosis of atypical cases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1156","type":"journal-article","created":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T21:29:02Z","timestamp":1580333342000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Unilateral retinocytoma associated with a variant in the\n                    <i>RB1<\/i>\n                    gene"],"prefix":"10.1002","volume":"8","author":[{"given":"Shijing","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-0926","authenticated-orcid":false,"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)77821-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2011-300896"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1983.01040020519002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109029394"},{"issue":"6","key":"e_1_2_8_6_1","first-page":"1122","article-title":"Molecular etiology of low\u2010penetrance retinoblastoma in two pedigrees","volume":"52","author":"Dryja T. P.","year":"1993","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/323643a0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)38079-8"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1982.87"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.119.11.1699"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/35008695"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1076\/opge.25.1.45.29006"},{"issue":"5","key":"e_1_2_8_13_1","first-page":"1321","article-title":"Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors","volume":"9","author":"Kratzke R. 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