In vivo imaging of reis–bücklers and thiel–behnke corneal dystrophies using anterior segment optical coherence tomography

Citations of this article
Mendeley users who have this article in their library.

This article is free to access.


Purpose: To investigate in vivo corneal changes of genetically confirmed Reis–Bücklers corneal dystrophy (RBCD) and Thiel–Behnke corneal dystrophy (TBCD) using anterior segment optical coherence tomography (AS-OCT). Design: A single-center, prospective, comparative case series. Methods: Seven patients from 3 pedigrees (3 males, 4 females) with RBCD [Arg124Leu (R124L) heterozygous missense mutation of human transforming growth factor beta-induced (TGFBI) gene] and 4 patients from 3 pedigrees (3 males, 1 female) with TBCD [Arg555Gln (R555Q) heterozygous missense mutation of TGFBI gene] were examined. Six patients with RBCD and three patients with TBCD exhibited recurrence after corneal surgery including pene-trating keratoplasty, phototherapeutic keratectomy, and electrolysis. All patients were examined by slit-lamp biomicroscopy followed by AS-OCT. Selected AS-OCT images of the cornea were evaluated qualitatively for changes in shape and degree of light reflection of corneal deposits. Results: Slit-lamp biomicroscopy showed characteristic irregular gray opacities in Bowman’s layer in each dystrophy: a geographic pattern in RBCD and a honeycomb pattern in TBCD. In each dystrophy, distinct characteristic deposits were observed by AS-OCT as a banding lesion in Bowman’s layer and its adjacent epithelium/stroma. In RBCD, the banding lesion was highly reflective and sharply margined at the stroma. In contrast, deposits in TBCD in the same layer showed a saw-tooth pattern toward the epithelium and poorly margined at the stroma. Conclusion: AS-OCT is able to clearly identify characteristic in vivo corneal microstruc-tural changes associated with RBCD and TBCD. As a result, in vivo differentiation of RBCD and TBCD can be achieved.




Nishino, T., Kobayashi, A., Mori, N., Yokogawa, H., & Sugiyama, K. (2020). In vivo imaging of reis–bücklers and thiel–behnke corneal dystrophies using anterior segment optical coherence tomography. Clinical Ophthalmology, 14, 2601–2607.

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free