{"title":"Alport syndrome and eye.","authors":"Yeonji Jang, Jae Ho Jung","doi":"10.23876/j.krcp.24.080","DOIUrl":null,"url":null,"abstract":"<p><p>Alport syndrome, characterized by renal failure, hearing loss, and ocular abnormalities due to collagen type IV gene mutations, exhibits distinctive ocular manifestations in the various ocular tissues including the cornea, lens, and retina. Ophthalmological examinations, providing noninvasive visibility of basement membrane anomalies caused by collagen type IV mutations, can have a role in Alport syndrome diagnostics. Lenticonus, macular fleck, and other abnormalities also can serve as indicators of inheritance patterns and predictors of severe mutations or early-onset renal failure. Recognizing these manifestations in advance enables timely surgical intervention, potentially improving long-term visual outcomes. This review highlights the ocular features in Alport syndrome and contributes to the understanding of the relationships among ocular abnormalities as well as the genotype-phenotype correlations in Alport syndrome. In these ways, hopefully, it will guide further research and help to inform the development of clinical strategies.</p>","PeriodicalId":17716,"journal":{"name":"Kidney Research and Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.9000,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kidney Research and Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.23876/j.krcp.24.080","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Alport syndrome, characterized by renal failure, hearing loss, and ocular abnormalities due to collagen type IV gene mutations, exhibits distinctive ocular manifestations in the various ocular tissues including the cornea, lens, and retina. Ophthalmological examinations, providing noninvasive visibility of basement membrane anomalies caused by collagen type IV mutations, can have a role in Alport syndrome diagnostics. Lenticonus, macular fleck, and other abnormalities also can serve as indicators of inheritance patterns and predictors of severe mutations or early-onset renal failure. Recognizing these manifestations in advance enables timely surgical intervention, potentially improving long-term visual outcomes. This review highlights the ocular features in Alport syndrome and contributes to the understanding of the relationships among ocular abnormalities as well as the genotype-phenotype correlations in Alport syndrome. In these ways, hopefully, it will guide further research and help to inform the development of clinical strategies.
期刊介绍:
Kidney Research and Clinical Practice (formerly The Korean Journal of Nephrology; ISSN 1975-9460, launched in 1982), the official journal of the Korean Society of Nephrology, is an international, peer-reviewed journal published in English. Its ISO abbreviation is Kidney Res Clin Pract. To provide an efficient venue for dissemination of knowledge and discussion of topics related to basic renal science and clinical practice, the journal offers open access (free submission and free access) and considers articles on all aspects of clinical nephrology and hypertension as well as related molecular genetics, anatomy, pathology, physiology, pharmacology, and immunology. In particular, the journal focuses on translational renal research that helps bridging laboratory discovery with the diagnosis and treatment of human kidney disease. Topics covered include basic science with possible clinical applicability and papers on the pathophysiological basis of disease processes of the kidney. Original researches from areas of intervention nephrology or dialysis access are also welcomed. Major article types considered for publication include original research and reviews on current topics of interest. Accepted manuscripts are granted free online open-access immediately after publication, which permits its users to read, download, copy, distribute, print, search, or link to the full texts of its articles to facilitate access to a broad readership. Circulation number of print copies is 1,600.