TY - JOUR
T1 - The role of CFTR in the eye, and the effect of early highly effective modulator treatment for cystic fibrosis on eye health
AU - Schneider-Futschik, Elena K.
AU - Zhu, Yimin
AU - Li, Danni
AU - Habgood, Mark D.
AU - Nguyen, Bao N.
AU - Pankonien, Ines
AU - Amaral, Margarida D.
AU - Downie, Laura E.
AU - Chinnery, Holly R.
N1 - Publisher Copyright:
© 2024 The Authors
PY - 2024/11
Y1 - 2024/11
N2 - 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.
AB - 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.
KW - Anterior eye
KW - Cornea
KW - Cystic fibrosis
KW - Dry eye
KW - Immune
KW - Lens
KW - Retina
KW - Tear film
UR - http://www.scopus.com/inward/record.url?scp=85204715315&partnerID=8YFLogxK
U2 - 10.1016/j.preteyeres.2024.101299
DO - 10.1016/j.preteyeres.2024.101299
M3 - Review article
C2 - 39245300
AN - SCOPUS:85204715315
SN - 1350-9462
VL - 103
JO - Progress in Retinal and Eye Research
JF - Progress in Retinal and Eye Research
M1 - 101299
ER -