Shedding light on myopia by studying complete congenital stationary night blindness

被引：17

作者：

Zeitz, Christina ^{[1
]}

Roger, Jerome E. ^{[2
]}

Audo, Isabelle ^{[1
,3
]}

Michiels, Christelle ^{[1
]}

Sanchez-Farias, Nuria ^{[1
]}

Varin, Juliette ^{[1
]}

Frederiksen, Helen ^{[1
]}

Wilmet, Baptiste ^{[1
]}

Callebert, Jacques ^{[4
]}

Gimenez, Marie-Laure ^{[1
]}

Bouzidi, Nassima ^{[1
]}

Blond, Frederic ^{[1
]}

Guilllonneau, Xavier ^{[1
]}

Fouquet, Stephane ^{[1
]}

Leveillard, Thierry ^{[1
]}

Smirnov, Vasily ^{[1
]}

Vincent, Ajoy ^{[5
,6
,7
]}

Heon, Elise ^{[5
,6
,7
]}

Sahela, Jose-Alain ^{[1
,8
]}

Kloeckener-Gruissemi, Barbara ^{[9
]}

Sennlaub, Florian ^{[1
]}

Morgansj, Catherine W. ^{[10
]}

Duvoisinj, Robert M. ^{[10
]}

V. Tkatchenko, Andrei ^{[11
,12
]}

Picaud, Serge ^{[1
]}

机构：

[1] Sorbonne Univ, CNRS, INSERM, Inst Vis, Paris, France

[2] Univ Paris Saclay, CNRS, Paris Saclay Inst Neurosci, CERTO Retina France, Saclay, France

[3] CHNO Quinze Vingts, INSERM, DGOS CIC 1423, Paris, France

[4] Hosp Lariboisiere, APHP, INSERM, Serv Biochem & Mol Biol,U942, Paris, France

[5] Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada

[6] Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada

[7] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada

[8] Univ Pittsburgh, Dept Ophthalmol, Sch Med, Pittsburgh, PA USA

[9] Swiss Fed Inst Technol, Dept Biol, Zurich, Switzerland

[10] Oregon Hlth & Sci Univ, Dept Chem Physiol & Biochem, Portland, OR USA

[11] Oujiang Lab, Zhejiang Lab Regenerat Med Vis & Brain Hlth, Wenzhou, Peoples R China

[12] Columbia Univ, Edward S Harkness Eye Inst, Dept Ophthalmol, New York, NY USA

来源：

PROGRESS IN RETINAL AND EYE RESEARCH | 2023年 / 93卷

关键词：

Congenital stationary night blindness; Myopia; Retina; Transcriptome sequencing; meta-Analysis; FORM-DEPRIVATION MYOPIA; LEUCINE-RICH REPEAT; GENOTYPE-PHENOTYPE CORRELATIONS; RETINAL GENE-EXPRESSION; SCHOOL-AGE-CHILDREN; LENS-INDUCED MYOPIA; TREE SHREW SCLERA; REFRACTIVE ERROR; MOUSE MODEL; CHONDROMODULIN-I;

D O I：

10.1016/j.preteyeres.2022.101155

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页数：27

共 353 条

[91] Retinal function with lens-induced myopia compared with form-deprivation myopia in chicks [J].