X linked Juvenile Retinoschisis |
X-linked juvenile retinoschisis 1 is an X-linked recessive disorder
in which males develop splitting of the nerve fiber layer
in both eyes, possibly related to a Müller cell defect. It is
caused by mutation in the retinoschisis gene (RS1) at Xp22.
Fundus changes include a characteristic stellate cystic appearance
of the macula referred to as “foveal schisis” which is
associated with a mild to moderate decline in vision. Despite
a cystic appearance, the macular lesion does not stain on
fluorescein angiography. Peripheral retinoschisis, typically
inferotemporal, occurs in about half of the affected patients
who may also experience large inner-layer holes associated
with “vitreous veils.” Sheathed, occluded, and unsupported
retinal vessels with vitreous hemorrhage may also occur.
Retinal detachment affects 16–22% of cases.