Retinal detachment associated with the splice site mutation c.53-1G>A in the RS1 gene: A case report and review of the literature

Retinoschisin protein is mainly produced in the retina, with minimal expression in other tissues. It is located on the surface of the photoreceptor inner segments and bipolar cells. X-linked retinoschisis, caused by mutations in the RS1 gene, primarily presents as cavities in the retina and separation of the layers. We report a case of a 2-year-old male patient with notable clinical differences in both eyes. During follow-up, genetic testing confirmed an RS1 gene mutation causing retinal detachment and X-linked retinoschisis, with no family history of the disease. The clinical diagnosis of retinal detachment may seem straightforward, but its cause is complex and diverse. For patients with retinal detachment, clinicians need to determine its underlying cause. It is important to note that patients with X-linked retinoschisis may exhibit different phenotypes in each eye, and genetic testing is essential for the clinical diagnosis of X-linked retinoschisis.