How To Spot And Diagnose X-Linked Retinoschisis

X-linked retinoschisis is a genetically inherited condition that primarily affects individuals with XY chromosomes. The condition is most often diagnosed during childhood, sometimes when infants are as young as three months old. The most characteristic symptom is a reduction in vision that isn't improved with glasses. Some patients experience progressive vision loss over the course of their life, but others have fairly stable vision. X-linked retinoschisis occurs when a mutation in the RS1 gene located on the X chromosome causes the body to improperly produce retinoschisin. Normal retinoschisin is important to help the retina develop and be maintained throughout an individual's life. With X-linked retinoschisis, the retina's layers split, which disrupts the inter-cell communication and leads to loss of vision.

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Strabismus

Strabismus occurs when the eyes don't align properly. Normally, the two eyes work together to gather and interpret visual data. With strabismus, only one eye looks at the object the individual is viewing, while the other is aligned inward, upward, outward, or downward. Patients with X-linked retinoschisis may present with strabismus because of the separation of the layers of the retina. There are different types of strabismus. It can be intermittent or constant. Sometimes it affects only one eye, while other patients may alternate in the eye that focuses. To stop from developing double vision, the brain disregards the visual data that the misaligned eye provides, which tends to lead to 'lazy eye.'

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Farsightedness

Farsightedness, also called hyperopia, is a common vision-related condition. Some individuals with X-linked retinoschisis might have farsightedness that doesn't seem to get better with glasses. A farsighted individual sees objects in the distance clearly, but objects nearby tend to be blurry. Different degrees of farsightedness have an effect on the eye's ability to focus. When an individual has severe farsightedness, they might only be able to see objects that are far away, but those with mild farsightedness may see closer objects clearly. The structures in the eye that help focus objects are the cornea and lens. In normally-shaped eyes, these structures work together to focus images on the retina. However, in X-linked retinoschisis patients, the separation of the retinal layers causes images to be focused incorrectly.

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