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Article Dans Une Revue Progress in Retinal and Eye Research Année : 2023

Shedding light on myopia by studying complete congenital stationary night blindness

Christina Zeitz
Isabelle Audo
Jacques Callebert
  • Fonction : Auteur
Andrei V Tkatchenko
  • Fonction : Auteur

Résumé

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.
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CSNBandMyopiarevised01122022forHAL.pdf (2.65 Mo) Télécharger le fichier
Supp Table S1-All-DEG-FC1.2-P0.01-TPM5.xlsx (236.73 Ko) Télécharger le fichier
Supp Table S4-GRM6-DEG-FC1.2-P0.01-TPM5.xlsx (120.06 Ko) Télécharger le fichier
Supp Table S5 DEG-CSNB-at_least_2-FC1.2-P0.01-TPM5-FINAL22032021.xlsx (26.13 Ko) Télécharger le fichier
SuppTable S2-GPR179-DEG-FC1.2-P0.01-TPM5.xlsx (89.72 Ko) Télécharger le fichier
SuppTable S3-LRIT3-DEG-FC1.2-P0.01-TPM5.xlsx (79.06 Ko) Télécharger le fichier
mmc5corr.pdf (950.83 Ko) Télécharger le fichier
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Dates et versions

hal-03954516 , version 1 (31-01-2023)

Identifiants

Citer

Christina Zeitz, Jérome E Roger, Isabelle Audo, Christelle Michiels, Nuria Sánchez-Farías, et al.. Shedding light on myopia by studying complete congenital stationary night blindness. Progress in Retinal and Eye Research, 2023, ⟨10.1016/j.preteyeres.2022.101155⟩. ⟨hal-03954516⟩
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