Clinical manifestation and current therapeutics in X-juvenile retinoschisis.
Journal
Journal of the Chinese Medical Association : JCMA
ISSN: 1728-7731
Titre abrégé: J Chin Med Assoc
Pays: Netherlands
ID NLM: 101174817
Informations de publication
Date de publication:
01 03 2022
01 03 2022
Historique:
entrez:
8
3
2022
pubmed:
9
3
2022
medline:
26
4
2022
Statut:
ppublish
Résumé
X-linked juvenile retinoschisis (XLRS) is one of the common early-onset hereditary retinal degenerative diseases in men. The common symptoms of XLRS range from mild to severe central vision loss and radial stripes created by the fovea, the division of the inner layer of the retina in the peripheral retina and the significant decrease in b-wave amplitude (ERG). Retinoschisin, the 224-amino-acid protein product of the retinoschisis 1 (RS1) gene, contains a discoid domain as the primary structural unit, an N-terminal cleavable signal sequence, and an oligomerization-area component. Retinoschisin is a homo-octamer complex with disulfide links that are released by retinal cells. It helps preserve the retina's integrity by binding to the surface of photoreceptors and bipolar cells. As a recessive genetic disease, XLRS was usually treated by prescribing low vision aids in most clinical cases. A gene replacement therapy based on adeno-associated virus vectors was initiated and showed a breakthrough in treating XLRS in 2014. Understanding the revolution of gene therapy for treating XLRS may accelerate its development and make this gene therapy the template for developing therapeutics against other inherited retinal diseases.
Identifiants
pubmed: 35259130
doi: 10.1097/JCMA.0000000000000684
pii: 02118582-202203000-00003
doi:
Substances chimiques
Eye Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
276-278Informations de copyright
Copyright © 2022, the Chinese Medical Association.
Déclaration de conflit d'intérêts
Conflicts of interest: The authors declare that they have no conflicts of interest related to the subject matter or materials discussed in this article.
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