In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel–Behnke corneal dystrophy

Corneal dystrophy of the Bowman layer is typically recognised as Reis–Bucklers corneal dystrophy or Thiel–Behnke corneal dystrophy (TBCD) with different clinical presentations, featuring a progressive autosomal dominant dystrophy characterised by bilateral, symmetrical opacities located in the Bowman layer in early childhood.1 In vivo confocal microscopy (IVCM) may be a useful auxiliary diagnostic tool in the differentiation among the different spectrum of corneal dystrophy. We described three cases of TBCD with R555Q mutation in TGFBI/BIGH3 had distinct presentations in the findings of IVCM. This study describes one family with history of corneal dystrophy of the Bowman layer (figure 1). Three patients in the same family were diagnosed as having TBCD. All affected individuals received molecular genetic survey and IVCM after giving written informed consent. All medical records and clinical photographs were examined. After adequate anaesthesia and application of a sterile non-applanating lens, the central and peripheral regions of cornea were examined …