16.1 Features
Retinoschisis is a pathological retinal condition characterized by abnormal splitting of the neural retina. There are many categories and pathophysiological conditions that cause retinoschisis. General classification of retinoschisis can be considered as degenerative, hereditary, tractional, and exudative. The location of schisis also varies from foveal to peripheral. Retinoschisis may also be a finding (rather than the primary disorder) in various conditions including tractional changes in proliferative diabetic retinopathy and exudative changes in severe neovascular age-related macular degeneration. X-linked retinoschisis is associated with the mutations of RS1 gene, characterized by macular retinoschisis, peripheral schisis, and electroretinogram changes including negative pattern.
The macular retinoschisis is also characterized by foveal microcysts in a spoke–wheel pattern and the spoke–wheel-like appearance in the inner retina is found in all cases of X-linked retinoschisis. Peripheral retinoschisis is present in around half of the cases of X-linked retinoschisis. This chapter will focus on degenerative and hereditary X-linked retinoschisis.
16.1.1 Common Symptoms
May be asymptomatic. Visual acuity loss and visual field loss may be present. Absolute scotoma in the area of the schisis.
16.1.2 Exam Findings
Degenerative Retinoschisis
Peripheral retinal exam demonstrates inner retinal elevation that may be low-lying or bullous. The elevation tends to be smooth without corrugations, in contrast to retinal detachment. This can occur anywhere in the retinal periphery but is most common in the inferotemporal quadrant. Scleral depressed exam does not result in apposition of the retina to the retinal pigment epithelium (RPE) and decreased height of the elevation. Outer retinal holes may be present. Pigmentary changes are uncommon. Yellow–white surface dots may be present in the area of the schisis (▶ Fig. 16.1; ▶ Fig. 16.2).
Fig. 16.1 Fundus photograph of bullous degenerative retinoschisis (arrowhead) in the inferotemporal periphery.
Fig. 16.2 (a) Ultra-widefield fundus photograph of superotemporal bullous degenerative retinoschisis (arrowhead). (b) Peripheral optical coherence tomography demonstrating peripheral retinal splitting with elevation of the inner retina (arrow) and stable attachment of the outer retina to the retinal pigment epithelium (arrowhead).
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