Gene therapy shines light on congenital stationary night blindness for future cures DOI Creative Commons
Yi Zhang, Siqi Lin,

Lingqi Yu

и другие.

Journal of Translational Medicine, Год журнала: 2025, Номер 23(1)

Опубликована: Апрель 3, 2025

Congenital Stationary Night Blindness (CSNB) is a non-progressive hereditary eye disease that primarily affects the retinal signal processing, resulting in significantly reduced vision under low-light conditions. CSNB encompasses various subtypes, each with distinct genetic patterns and pathogenic genes. Over past few decades, gene therapy for disorders has made substantial progress; however, effective clinical therapies are yet to be discovered. With continuous advancement of gene-therapy tools, there potential these methods become treatments CSNB. Nonetheless, challenges remain treatment CSNB, including issues related delivery vectors, therapeutic efficacy, possible side effects. This article reviews diagnosis, pathogenesis, associated mutated genes discusses existing animal models, explores application technologies disorders, as well current state research on

Язык: Английский

Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies DOI Creative Commons

Elizabeth B. Bolton,

Andy Drackley, Antionette L. Williams

и другие.

Life, Год журнала: 2025, Номер 15(3), С. 395 - 395

Опубликована: Март 3, 2025

The CYP1B1 gene encodes a cytochrome p450 monooxygenase enzyme, and over 150 variants have been associated with spectrum of eye diseases, including primary congenital glaucoma, anterior segment dysgenesis, juvenile open-angle glaucoma. Clinical genetics has yielded insights into the functions various domains; however, animal studies are required to investigate molecular role in eye. While both zebrafish mice express developing eye, embryonic shown disparate species-specific functions. In zebrafish, regulates ocular fissure closure such that overexpression causes remarkable phenotype consisting absence posterior wall. Adult null lack an but show mild craniofacial abnormalities. contrast, CYP1B1−/− display post-natal severe trabecular meshwork degeneration due increased oxidative stress damage. Interestingly, retinal ganglion cells may be more susceptible damage secondary intraocular pressure. Future studies, detailed genotype–phenotype information work elucidating regulation, substrates, downstream effects CYP1B1, will yield important for molecularly targeted therapies aim prevent vision loss CYP1B1-related diseases.

Язык: Английский

Процитировано

0
Gene therapy shines light on congenital stationary night blindness for future cures DOI Creative Commons
Yi Zhang, Siqi Lin,

Lingqi Yu

и другие.

Journal of Translational Medicine, Год журнала: 2025, Номер 23(1)

Опубликована: Апрель 3, 2025

Congenital Stationary Night Blindness (CSNB) is a non-progressive hereditary eye disease that primarily affects the retinal signal processing, resulting in significantly reduced vision under low-light conditions. CSNB encompasses various subtypes, each with distinct genetic patterns and pathogenic genes. Over past few decades, gene therapy for disorders has made substantial progress; however, effective clinical therapies are yet to be discovered. With continuous advancement of gene-therapy tools, there potential these methods become treatments CSNB. Nonetheless, challenges remain treatment CSNB, including issues related delivery vectors, therapeutic efficacy, possible side effects. This article reviews diagnosis, pathogenesis, associated mutated genes discusses existing animal models, explores application technologies disorders, as well current state research on

Язык: Английский

Процитировано

0