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In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel–Behnke corneal dystrophy
  1. Ying-Jen Chen,
  2. Jiann-Torng Chen,
  3. Da-Wen Lu,
  4. Ming-Cheng Tai
  1. Department of Ophthalmology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan
  1. Correspondence to Dr Ming-Cheng Tai, Department of Ophthalmology, Tri-Service General Hospital, National Defense Medical Center, No. 325, Section 2, Cheng-Kung Road, Neihu 114, Taipei, Taiwan; mingchengt{at}yahoo.com

https://doi.org/10.1136/bjo.2009.165217

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    Corneal dystrophy of the Bowman layer is typically recognised as Reis–Bücklers 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.

    Case reports

    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 …

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    Footnotes

    • Competing interests None.

    • Ethics approval Ethics approval was provided by the Institutional Review Board, Tri-Service General Hospital.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.