A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 .
Nathália Nishiyama TondelliBeatriz Mello MencaroniCarolina Maria Barbosa LemosJefferson Rocha de SousaGabriel Castilho Sandoval BarbosaAndré Marcelo Vieira GomesMariana Matioli da PalmaPublished in: Ophthalmic genetics (2023)
The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.