Investigation of germline variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.

Background: Retinal capillary hemangioblastoma (RCH), while sporadic in some cases, is the most common and earliest manifestation of von Hippel-Lindau disease (VHL). This is the first report on different types of VHL variants and genotype-phenotype correlations in Iranian families with RCH.

Materials And Methods: In this prospective observational case series study, 17 families with RCH were included.

Association of RB1 rs9568036 and CDKN1A rs1801270 Polymorphisms with Retinoblastoma Susceptibility.

Purpose: To investigate the association of polymorphisms (rs9568036 and rs1801270) in the and genes with susceptibility to retinoblastoma (RB).

Methods: This case-control study was designed with 50 patients with RB and 50 controls. Polymerase chain reaction was performed to amplify the intron 17 of rs9568036 and exon 2 of rs1801270.