TY - JOUR
T1 - Shedding light on myopia by studying complete congenital stationary night blindness
AU - Zeitz, Christina
AU - Roger, Jérome E.
AU - Audo, Isabelle
AU - Michiels, Christelle
AU - Sánchez-Farías, Nuria
AU - Varin, Juliette
AU - Frederiksen, Helen
AU - Wilmet, Baptiste
AU - Callebert, Jacques
AU - Gimenez, Marie Laure
AU - Bouzidi, Nassima
AU - Blond, Frederic
AU - Guilllonneau, Xavier
AU - Fouquet, Stéphane
AU - Léveillard, Thierry
AU - Smirnov, Vasily
AU - Vincent, Ajoy
AU - Héon, Elise
AU - Sahel, José Alain
AU - Kloeckener-Gruissem, Barbara
AU - Sennlaub, Florian
AU - Morgans, Catherine W.
AU - Duvoisin, Robert M.
AU - Tkatchenko, Andrei V.
AU - Picaud, Serge
N1 - Publisher Copyright:
© 2022 Elsevier Ltd
PY - 2023/3
Y1 - 2023/3
N2 - Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in a variety of biological processes including eye morphogenesis, extracellular matrix organization, visual perception, circadian rhythms, and retinal signaling. Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in human myopia. Complete congenital stationary night blindness (cCSNB) in humans and animal models represents an ON-bipolar cell signal transmission defect and is also associated with high myopia. Thus, it represents also an interesting model to identify myopia-related genes, as well as disease mechanisms. While the origin of night blindness is molecularly well established, further research is needed to elucidate the mechanisms of myopia development in subjects with cCSNB. Using whole transcriptome analysis on three different mouse models of cCSNB (in Gpr179−/−, Lrit3−/− and Grm6−/−), we identified novel actors of the retinal signaling cascade, which are also novel candidate genes for myopia. Meta-analysis of our transcriptomic data with published transcriptomic databases and genome-wide association studies from myopia cases led us to propose new biological/cellular processes/mechanisms potentially at the origin of myopia in cCSNB subjects. The results provide a foundation to guide the development of pharmacological myopia therapies.
AB - Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in a variety of biological processes including eye morphogenesis, extracellular matrix organization, visual perception, circadian rhythms, and retinal signaling. Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in human myopia. Complete congenital stationary night blindness (cCSNB) in humans and animal models represents an ON-bipolar cell signal transmission defect and is also associated with high myopia. Thus, it represents also an interesting model to identify myopia-related genes, as well as disease mechanisms. While the origin of night blindness is molecularly well established, further research is needed to elucidate the mechanisms of myopia development in subjects with cCSNB. Using whole transcriptome analysis on three different mouse models of cCSNB (in Gpr179−/−, Lrit3−/− and Grm6−/−), we identified novel actors of the retinal signaling cascade, which are also novel candidate genes for myopia. Meta-analysis of our transcriptomic data with published transcriptomic databases and genome-wide association studies from myopia cases led us to propose new biological/cellular processes/mechanisms potentially at the origin of myopia in cCSNB subjects. The results provide a foundation to guide the development of pharmacological myopia therapies.
KW - Congenital stationary night blindness
KW - Myopia
KW - Retina
KW - Transcriptome sequencing
KW - meta-Analysis
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U2 - 10.1016/j.preteyeres.2022.101155
DO - 10.1016/j.preteyeres.2022.101155
M3 - Review article
C2 - 36669906
AN - SCOPUS:85149471033
SN - 1350-9462
VL - 93
JO - Progress in Retinal and Eye Research
JF - Progress in Retinal and Eye Research
M1 - 101155
ER -