12.6

X-Linked Juvenile Retinoschisis

Introduction:

X-Linked juvenile retinoschisis (XLRS) is the most common type of child-onset retinal degeneration in males and is caused by a mutation in the RS1 gene.

Clinical Features:

There is almost always schisis in the fovea, which is often accompanied by schisis in the peripheral retina (50% of affected eyes), usually inferotemporally. The foveal schisis leads to a characteristic clinical appearance similar to cystoid macular edema with a radial spoke-like pattern (Fig. 12.6.1).

Figure 12.6.1

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