Abstract
Many mutations in the retinoschisis (RS1) gene have been identified, but there are limited clinical data relating to the different genotypes. This study investigated the genotype, clinical phenotype and therapies for X-linked juvenile retinoschisis (XLRS) patients in China to evaluate the effects of gene mutations and therapies on the prognosis of the disease. Thirty patients were recruited in the study. Genetic examination identified 8 novel RS1 gene mutations. Twenty-four patients were identified as missense mutation, which was the most common gene mutation in XLRS patients. Amino acids 102 and 209 were the most common mutation areas, accounting for a total 35.7% of all patients. Mutations affecting amino acid 102 were associated with poor results on the flash electroretinogram (ERG). Sixteen patients had various complications. Anti-vascular endothelial growth factor (VEGF) drugs were given to four patients with hemorrhage or other complications, and serious adverse events did not occur. Our outcome demonstrates that missense mutation was the leading cause of XLRS and more than half of the patients with this missense had various complications. Anti-VEGF drugs may be an effective and safe way to prevent deterioration of XLRS with certain complications. There is wide genotypic and phenotypic variability in Chinese patients with XLRS.
Highlights
X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy characterized by foveal schisis within the inner retinal layers in young patients[1,2,3]
Our results confirm that RS1 gene mutation is the primary factor in the development of X-linked juvenile retinoschisis (XLRS)
XLRS patients possess the characteristic of high incidence of various complications
Summary
X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy characterized by foveal schisis within the inner retinal layers in young patients[1,2,3]. Retinoschisis, first described by Hass in 1898, has the clinical feature of early visual loss associated with the bilateral foveae and retinoschisis is the most common clinical finding in young patients[6,7]. Since the gene was first characterized, a large number of relevant studies have contributed to improving the diagnosis and understanding of the disease. There is currently no appropriate approach to halt the progressive maculopathy in XLRS, so the clinical management is mainly for the therapy of complications[7]. We reviewed the molecular genetics, clinical features, and therapeutic options of XLRS patients in our department, both to improve the clinical management and to better understand the retinal function and development of XLRS
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