Thelansis

  X-linked retinoschisis (XLRS) is a hereditary retinal dystrophy resulting from mutations in the RS1 gene located on the X chromosome at position Xp22.1. This genetic alteration leads to schisis (splitting) of the neural retina, primarily affecting men. The condition accounts for nearly all cases of congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis comprising the remaining cases. Importantly, retinoschisis differs significantly from retinal detachment, as it involves splitting within the inner retinal layers rather than between the neural retina and the retinal pigment epithelium. Disease severity varies widely, even among individuals harboring the same causative RS1 mutation. Interestingly, there is no discernible correlation between the specific mutation type and the severity or progression of the disorder. Typically, patients present with poor vision and reading difficulties during school age, although some may exhibit symptoms as early as ...