PURPOSE To determine the types and frequency of ocular conditions simulating retinoblastoma (pseudo-retinoblastoma) at Farabi Eye Hospital, Tehran, Iran. METHODS We reviewed data of patients who were referred with a diagnosis of retinoblastoma to Farabi Eye Hospital oncology clinic, from January 2009 to July 2013. Examination under general anesthesia was performed for all patients. Other inve...

PURPOSE To evaluate retrospectively clinical features and surgical outcomes of rhegmatogenous retinal detachment in juvenile patients. METHODS Between 1991 and 1996, 28 patients younger than 15 years of age with rhegmatogenous retinal detachment (32 eyes) underwent the first surgical procedure, scleral buckling and/or pars plana vitrectomy, at our hospital. RESULTS The major types of juveni...

Frizzled 4 belongs to the superfamily of G protein coupled receptors. The unstructured cytosolic tail of the receptor is essential for its activity. The mutation L501fsX533 in the fz4 gene results in a new COOH-tail of the receptor and causes a form of Familial exudative vitreoretinopathy. Here we show that the mutated tail is structured. Two amphipathic helices, displaying affinity for membran...

BACKGROUND/AIMS Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. METHODS Affected members and...

unifocality, negative family history, and the absence of large dilated tortuous feeder vessels. The exact cause is unknown, although it has been proposed that they could be expressions of vascularization of pigment epithelial proliferation or reactive gliosis. We postulate that in the setting of chronic ROP and familial exudative vitreoretinopathy, there is retinal ischemia that produces a micr...

Angiogenesis and blood-brain barrier formation are required for normal central nervous system (CNS) function. Both processes are controlled by Wnt or Norrin (NDP) ligands, Frizzled (FZD) receptors, and β-catenin-dependent signalling in vascular endothelial cells. In the retina, FZD4 and the ligand NDP are critical mediators of signalling and are mutated in familial exudative vitreoretinopathy. ...

PURPOSE We report a case of unilateral exudative retinal detachment in a patient with thrombotic thrombocytopenic purpura (TTP), without associated hypertension, successfully treated with plasmapheresis. CASE REPORT A 46-year-old woman with a medical history of TTP presented with unilateral exudative retinal detachment. Biological and radiological assessment eliminated other causes of exudati...

Purpose LRP5, NDP, and TSPAN12 are known to be associated with familial exudative vitreoretinopathy (FEVR). In this study, a comprehensive mutation screening for the three genes was performed in patients with a clinical diagnosis of FEVR in Han Chinese. Methods Genomic DNA and clinical data were collected from 100 probands and their family members. Sanger sequencing was performed to screen fo...