Subretinal linear fibrosis, pigmentation, white retinal flecks, vascular attenuation, and vascular sheathing may also be present. The inner retina of the retinoschisis can develop large oval gaps. Visual loss may later progress to legal blindness (acuity 50 years old commonly have pigmentary changes and retinal pigment epithelium atrophy in the macula. During the first and second decades of life, visual acuity may deteriorate slightly but then remains relatively stable until the fifth or sixth decade, when slowly progressive macular atrophy can arise. On first presentation, affected males typically have a visual acuity of 20/60 to 20/120. Visual acuity may range from 20/20 to blindness, and depends on the amount and location of schisis. There is large variation in disease severity among patients, even among patients with the same genetic mutation. Optos photo of a child with foveal retinoschisis Family history of childhood eye disease consistent with X-linked inheritance should be assessed. Patients typically present at school age complaining of poor vision or difficulty in school, although they may present in infancy with nystagmus or strabismus. On histopathological examination, the splitting in X-linked retinoschisis occurs predominantly in the nerve fiber layer. This protein is found throughout the retina, and is thought to be involved in cell-cell adhesion and intercellular matrix retinal architecture development through interactions with αβ crystallin and β2-laminin. The gene encodes a 224-amino acid protein called retinoschisin, which is secreted by photoreceptors. X-linked retinoschisis is linked to mutations in RS1 on Xp22.1-p22.3. The phenotype can be markedly variable even within the same genotype, and can involve the peripheral retina. However, retinoschisis has been reported in non-consanguinous females. Most affected individuals are males, as heterozygous females are rarely affected. X-linked retinoschisis is inherited in an X-linked manner with complete penetrance and variable expressivity. This protein is involved in intercellular adhesion and likely retinal cellular organization. It is caused by a large variety of mutations in the RS1 gene on Xp22.1-p22.3, which encodes the protein retinoschisin. It is characterized by symmetric bilateral macular involvement beginning in the first decade of life.
![x linked inheritance x linked inheritance](https://image1.slideserve.com/3018132/slide3-l.jpg)
X-linked retinoschisis, with a prevalence of about 1 in 15,000 to 30,000, is one of the main causes of juvenile macular degeneration in males. X-linked retinoschisis has also been referred to as: juvenile retinoschisis, congenital retinoschisis, juvenile macular degeneration/dystrophy, degenerative retinoschisis, and vitreous veils of the retina. X-linked Retinoschisis, or X-Linked Juvenile Retinoschisis is a rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes retinoschisin, a protein involved in intercellular adhesion and likely retinal cellular organization.