Clinical manifestation and current therapeutics in X-juvenile retinoschisis.

Abstract

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.

• Authors: Yi-Ping Yang, Ying-Chun Jheng, Yueh Chien, Ping-Hsing Tsai, De-Kuang Hwang, Chang-Chi Weng, Yi-Ming Huang, Chih-Chien Hsu, Yu-Bai Chou, Shih-Jen Chen, Tai-Chi Lin
• Journal: Journal of the Chinese Medical Association : JCMA (J Chin Med Assoc) Vol. 85 Issue 3 Pg. 276-278 (03 01 2022) ISSN: 1728-7731 [Electronic] Netherlands
• PMID: 35259130 (Publication Type: Journal Article)
• Copyright: Copyright © 2022, the Chinese Medical Association.

Chemical References

• Eye Proteins

Topics

• Electroretinography
• Eye Proteins (genetics)
• Genetic Therapy
• Humans
• Male
• Retina
• Retinoschisis (genetics, metabolism, therapy)