TY - JOUR
T1 - Genetics behind Cerebral Disease with Ocular Comorbidity
T2 - Finding Parallels between the Brain and Eye Molecular Pathology
AU - Chang, Kao Jung
AU - Wu, Hsin Yu
AU - Yarmishyn, Aliaksandr A.
AU - Li, Cheng Yi
AU - Hsiao, Yu Jer
AU - Chi, Yi Chun
AU - Lo, Tzu Chen
AU - Dai, He Jhen
AU - Yang, Yi Chiang
AU - Liu, Ding Hao
AU - Hwang, De Kuang
AU - Chen, Shih Jen
AU - Hsu, Chih Chien
AU - Kao, Chung Lan
N1 - Publisher Copyright:
© 2022 by the authors.
PY - 2022/9
Y1 - 2022/9
N2 - Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus–Merzbacher disease), transcriptional deregulation diseases (Mowat–Wilson disease, Pitt–Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.
AB - Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus–Merzbacher disease), transcriptional deregulation diseases (Mowat–Wilson disease, Pitt–Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.
KW - cerebral visual impairment
KW - genetic diagnosis
KW - genome-wide association study
KW - Joubert syndrome
KW - Mowat–Wilson disease
KW - multiple sclerosis
KW - neuromyelitis optica spectrum disorder
KW - pathology
KW - phenome-wide association study
KW - Zellweger spectrum disorder
UR - http://www.scopus.com/inward/record.url?scp=85137595758&partnerID=8YFLogxK
U2 - 10.3390/ijms23179707
DO - 10.3390/ijms23179707
M3 - Review article
C2 - 36077104
AN - SCOPUS:85137595758
VL - 23
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
SN - 1661-6596
IS - 17
M1 - 9707
ER -