Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that plays a crucial role in various human organs, including the respiratory and digestive systems. Dysfunctional CFTR is the key variant of the lethal genetic disorder, cystic fibrosis (CF). In the past decade, highly effective CFTR modulator therapies, including elexacaftor-tezacaftor-ivacaftor, have revolutionised CF management by correcting the underlying molecular defect to improve patient outcomes and life expectancy. Despite demonstrating multiorgan efficacy, clinical studies have largely overlooked the potential for ocular disturbances with CFTR modulator therapy, with the exception of a few case studies reporting the presence of crystalline lens pathologies in young children on CFTR modulators, and in breastfed infants born to individuals who were on CFTR modulator treatment during pregnancy. CFTR is present in multiple tissues during embryonic development, including the eye, and its expression can be influenced by genetic and environmental factors. This review summarises the role of CFTR in the eye, and the potential impact of CFTR on eye function and vision later in life. This information provides a framework for understanding the use and possible effects of CFTR-modulating therapeutics in the context of eye health, including the potential to leverage the eye for non-invasive and accessible diagnostic and monitoring capabilities in patients with CF.

中文翻译：

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CFTR 在眼睛中的作用，以及囊性纤维化的早期高效调节剂治疗对眼睛健康的影响


囊性纤维化跨膜传导调节因子 （CFTR） 是一种在人体各种器官（包括呼吸和消化系统）中起着至关重要作用的蛋白质。功能失调的 CFTR 是致命遗传病囊性纤维化 （CF） 的关键变异。在过去十年中，高效的 CFTR 调节剂疗法，包括 elexacaftor-tezacaftor-ivacaftor，通过纠正潜在的分子缺陷来改善患者的预后和预期寿命，彻底改变了 CF 管理。尽管证明了多器官疗效，但临床研究在很大程度上忽视了 CFTR 调节剂治疗可能导致眼部不适的可能性，除了一些案例研究报告了使用 CFTR 调节剂的幼儿和母乳喂养婴儿在怀孕期间接受 CFTR 调节剂治疗的个体所生的婴儿中存在晶状体病变。CFTR 存在于胚胎发育过程中的多个组织中，包括眼睛，其表达受遗传和环境因素的影响。本综述总结了 CFTR 在眼睛中的作用，以及 CFTR 对以后生活中眼睛功能和视力的潜在影响。这些信息为理解 CFTR 调节疗法在眼睛健康方面的使用和可能的影响提供了一个框架，包括利用眼睛对 CF 患者进行无创和可及的诊断和监测能力的潜力。