Juvenile Retinoschisis Clinical Presentation

Updated: May 02, 2017
  • Author: Leslie Small, OD; Chief Editor: Donny W Suh, MD, FAAP  more...
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Presentation

History

Typically, patients with X-linked juvenile retinoschisis (XLRS) present with mild and gradual decreasing central vision that may be unnoticeable to the patient. Occasionally, the patient presents with a peripheral visual field defect secondary to a large schisis cavity or retinal detachment. Rarely, a patient may present with strabismus or severe vision loss secondary to a vitreous hemorrhage. 

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Physical

The visual acuity ranges from 20/20 to less than 20/200. The average visual acuity in young adults is around 20/70. Most patients with X-linked juvenile retinoschisis are hyperopic with astigmatic errors. Strabismus and nystagmus have been associated with X-linked juvenile retinoschisis when it significantly affects vision at a young age.

Abnormalities in the anterior chamber angle have also been described. Gonioscopy reveals a fine membrane extending from the root of the iris to the Schwalbe line. In recessive X-linked juvenile retinoschisis, foveal changes are seen in all cases and peripheral retinoschisis in one half of cases. In familial retinoschisis with autosomal inheritance (not X-linked), peripheral retinoschisis is seen in all cases and foveal changes in about one half of cases.

Maculopathy is characterized by stellate spokelike appearance with microcysts. Pigmentary changes in the retinal pigment epithelium occur, and, in the later stages, can mimic dry age-related macular degeneration. Situs inversus of the retinal vessels and optic disc dragging have been reported.

Vitreous veils are a common feature of X-linked juvenile retinoschisis. They result from a separation of the thin inner wall of a peripheral schisis cavity and the inner wall holes.

Peripheral retinoschisis often presents bilaterally and inferotemporally. In infancy, it is a large and bullous retinoschisis, which regresses, leaving behind a pigmented line in adults. [3]

In peripheral retinoschisis, holes are present in the superficial inner layer. Bridging vessels from the inner layer to the outer layer can be an associated finding. Traction on these vessels can lead to vitreous hemorrhages.

Other findings in the peripheral retina include silver-gray spots and dendritiform vascular changes.

In the female carrier state, a subtle wrinkling of the internal limiting membrane may be the only finding.

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Causes

The gene responsible for X-linked juvenile retinoschisis, XLRS1, is located on band Xp22. XLRS1 encodes a 224 amino acid protein retinoschisin that is expressed in photoreceptor and bipolar cells. Retinoschisin is a secreted protein that is involved in cellular adhesion and cell-cell interactions within the inner nuclear layer as well as synaptic connection between photoreceptors and bipolar cells. 

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