Pars plana ciliary epithelial proliferation in 13q deletion syndrome

The 13q deletion syndrome is an uncommon chromosomal disorder affecting the long arm of chromosome 13 which is deleted to a variable degree.1 This syndrome is phenotypically characterised by mental retardation, structural malformations, facial dysmorphism, and a predisposition to develop retinoblastoma.1 This intraocular tumour is diagnosed in approximately 80% of cases with this syndrome.2 Moreover, the incidence of bilateral retinoblastoma is much higher in individuals with this syndrome.3,4 The retinoblastoma susceptibility gene (RB-1), which encodes for the nuclear phosphoprotein of 105 kDa, is located in band 13q14.5 The involvement of the q14 band on the long arm of chromosome 13 places patients with this syndrome at significant risk for developing retinoblastoma.6 In addition, children with 13q deletion syndrome also show optic nerve hypoplasia and retinal dysplasia.7 In this case, we report additional findings of …