Jang Yeonji, Jung Jae Ho
Department of Ophthalmology, Uijeongbu Eulji Medical Center, Eulji University School of Medicine, Uijeongbu, Republic of Korea.
Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kidney Res Clin Pract. 2025 Jul;44(4):576-582. doi: 10.23876/j.krcp.24.080. Epub 2024 Nov 18.
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.
阿尔波特综合征因IV型胶原基因突变导致肾衰竭、听力丧失和眼部异常，在包括角膜、晶状体和视网膜在内的各种眼组织中表现出独特的眼部症状。眼科检查可提供由IV型胶原突变引起的基底膜异常的无创可视性，在阿尔波特综合征的诊断中发挥作用。圆锥形晶状体、黄斑斑点和其他异常也可作为遗传模式的指标以及严重突变或早发性肾衰竭的预测指标。提前识别这些表现能够及时进行手术干预，有可能改善长期视觉效果。本综述重点介绍了阿尔波特综合征的眼部特征，有助于理解眼部异常之间的关系以及阿尔波特综合征的基因型-表型相关性。希望通过这些方式，它将指导进一步的研究并有助于为临床策略的制定提供信息。
