Detection of X-Linked Juvenile Retinoschisis




Zhang, Jeremy

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A child’s education during adolescence is essential for mental and confidence development. As one is exposed to a constantly changing learning environment, unaccounted factors are extremely detrimental. One such factor is X-Linked Juvenile Retinoschisis (XLRS). In general, retinoschisis is a condition in which cysts form within the layers of the retina, causing separation of said layers [1]. Photoreceptor cells within the inner layer are permanently damaged, which ensures near complete blindness. XLRS is a genetic disease that affects an estimated 1 in 5000 males during (pre)adolescence. It causes mutation of the RS1 gene, responsible for creating a retina developmental protein named retinoschisin [2]. The absence of retinoschisin results in an underdeveloped outer layer, causing light to pass through, thus forming the cysts. The disease is incurable, and common visual enhancements cannot be applied to improve conditions [2]. Currently, detection followed by proper accommodation is the only viable prevention method. Such detection methods are genetic testing for the RS1 gene mutation, ocular echography (ultrasound), electroretinography (ERG), and optical coherence tomography (OCT). In this paper, we will mainly discuss ERG and OCT [3][4]. The initial diagnostic tool was electroretinography (ERG), in which a darkness adapted retina is exposed to flashes of light [3]. The photoreceptor cells produce an electrical potential that is measured. The aspects of these measurements will be discussed in this paper. As for recent advancements, OCT is the current method for commercial use, and subsequently generates high resolution 2D or 3D images [4]. This method involves utilizing long wavelength light to penetrate organic tissue. The light contacting the desired scan area is reflected and is processed through a signal receiver, while the other light waves are scattered [4]. In this research paper, we will review the various detection methods along with the complications these methods have on XLRS. Relevant information and data will be obtained and complied to determine the most viable methods, as well as the advantages and disadvantages of each. As XLRS is currently incurable and unpreventable, the importance of precise detection and observation is significant for the betterment and accommodation for those affected.



Retinoschisis, Electroretinography, Tomography