Juvenile X-Linked Retinosquisis

X-Linked retinosquisis, a bilateral disorder in 98% of cases, occurs in males, and classically demonstrates a stellate maculopathy and peripheral retinal dehiscences in the nerve fiber layer. Onset is in first decade or may be present at birth.

This disorder is mapped to the XRLS1/retinoschisin, which that codes for proteins necessary for cell-cell adhesion.

The OCT shows a microcystic-like change of the macula.

The major vision-threatening complications at later ages of X-linked retinoschisis are rhegmatogenous retinal detachment and vitreous hemorrhage.

Differential Diagnosis

• Familial exudative vitreoretinopathy
• Goldmann-Favré disease
• Norrie´s disease
• Retinitis pigmentosa
• Retinopathy of prematurity
• Stickler’s syndrome