CONGENITAL AND PEDIATRIC RETINAL DISEASES
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.
- Familial exudative vitreoretinopathy
- Goldmann-Favré disease
- Norrie´s disease
- Retinitis pigmentosa
- Retinopathy of...
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