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 Syndrome
