Open AccessClinical manifestation and current therapeutics in X-juvenile retinoschisis
Author(s) -
YiPing Yang,
Ying Chun Jheng,
Yueh Chien,
Ping-Hsing Tsai,
DeKuang Hwang,
Chang-Chi Weng,
Yiming Huang,
Chih-Chien Hsu,
Yu-Bai Chou,
ShihJen Chen,
TaiChi Lin
Publication year - 2022
Publication title -
journal of the chinese medical association
Language(s) - English
Resource type - Journals
eISSN - 1728-7731
pISSN - 1726-4901
DOI - 10.1097/jcma.0000000000000684
Subject(s) - retinoschisis , retina , medicine , retinal , genetic enhancement , retinal degeneration , gene , ophthalmology , retinal detachment , genetics , biology , neuroscience
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.