Linked Retinoschisis

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X-linked retinoschisis is an uncommon cause of retinal detachment in childhood accounting for 2.5-5% of all paediatric retinal detachments.

Most affected children have a characteristic foveal schisis and peripheral retinoschisis is seen in 70% (Fig. 12.5) [12]. Highly elevated, bullous retinoschisis involving the macula may occur in infancy and eventually reattach spontaneously, leaving pigment demarcation lines [11]. Haemorrhage may occur within the schisis cavity or the vitreous. Retinal detachment may occur in up to 16% [12]. A full thickness retinal break occurring de novo or a communication between outer and inner leaf defects in the schisis wall may lead to rhegmatogenous retinal detachment. Full thickness breaks may be effectively managed by scleral buckling procedures. Where communication exists between inner and outer leaf breaks, an internal approach may be required. The gene causing X-linked retinoschisis has now been identified and molecular genetic diagnosis in affected males and carrier females is now possible.

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