X-linked retinoschisis: a clinical and molecular genetic review

Abstract

X-linked retinoschisis is a leading cause of macular degeneration in male children. It is characterized by a high degree of clinical variability. Clinical features include a stellate foveal retinoschisis, with or without peripheral retinoschisis. The schisis occurs within the inner retina, primarily at the level of the nerve fiber layer. The disease-causing gene, X-linked retinoschisis 1, has recently been identified, and is expressed in photoreceptor and bipolar cells. This gene codes for retinoschisin, a secreted protein containing a discoidin domain which may be involved in cellular adhesion or cell-cell interactions. The identification of this gene allows for improved diagnosis and contributes to the understanding of this condition. Visual prognosis is variable, as X-linked retinoschisis exhibits a high degree of phenotypic variability. Although there is no treatment to halt the progressive maculopathy, clinical management is directed toward treatment of amblyopia and surgical correction of certain complications. X-linked retinoschisis is an important condition to study, both to improve the clinical management of this disorder, and to better understand retinal function and development. Herein, we review the clinical, histopathologic, and molecular genetic and treatment options of X-linked retinoschisis.