{"title":"一名卡布奇和马凡综合征患者的浆液性渗出性脱离和进行性黄斑变性。","authors":"Michael Bouaziz, Philip J Ferrone","doi":"10.3928/23258160-20240624-01","DOIUrl":null,"url":null,"abstract":"<p><p>To our knowledge, this is the first report of a patient with both genetically confirmed Kabuki and Marfan syndrome demonstrating a perifoveal macular degeneration in one eye. Progressive loss of the outer retinal layers was captured and demonstrated with spectral-domain optical coherence tomography imaging. Fundus autofluorescence imaging revealed perifoveal hypoautofluorescence. The patient had initially presented with a spontaneously resolved serous-exudative retinal detachment associated with tortuous retinal vasculature and preretinal proliferative vitreoretinopathy in the other eye. Prior to presentation, the patient had an ocular history of bilateral ectopia lentis treated with crystalline lens removal and placement of iris-claw intraocular lenses. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2024;55:541-544.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.\",\"authors\":\"Michael Bouaziz, Philip J Ferrone\",\"doi\":\"10.3928/23258160-20240624-01\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>To our knowledge, this is the first report of a patient with both genetically confirmed Kabuki and Marfan syndrome demonstrating a perifoveal macular degeneration in one eye. Progressive loss of the outer retinal layers was captured and demonstrated with spectral-domain optical coherence tomography imaging. Fundus autofluorescence imaging revealed perifoveal hypoautofluorescence. The patient had initially presented with a spontaneously resolved serous-exudative retinal detachment associated with tortuous retinal vasculature and preretinal proliferative vitreoretinopathy in the other eye. Prior to presentation, the patient had an ocular history of bilateral ectopia lentis treated with crystalline lens removal and placement of iris-claw intraocular lenses. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2024;55:541-544.]</b>.</p>\",\"PeriodicalId\":19679,\"journal\":{\"name\":\"Ophthalmic surgery, lasers & imaging retina\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmic surgery, lasers & imaging retina\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3928/23258160-20240624-01\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/1 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic surgery, lasers & imaging retina","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3928/23258160-20240624-01","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/1 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.
To our knowledge, this is the first report of a patient with both genetically confirmed Kabuki and Marfan syndrome demonstrating a perifoveal macular degeneration in one eye. Progressive loss of the outer retinal layers was captured and demonstrated with spectral-domain optical coherence tomography imaging. Fundus autofluorescence imaging revealed perifoveal hypoautofluorescence. The patient had initially presented with a spontaneously resolved serous-exudative retinal detachment associated with tortuous retinal vasculature and preretinal proliferative vitreoretinopathy in the other eye. Prior to presentation, the patient had an ocular history of bilateral ectopia lentis treated with crystalline lens removal and placement of iris-claw intraocular lenses. [Ophthalmic Surg Lasers Imaging Retina 2024;55:541-544.].
期刊介绍：
OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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