In Vivo Imaging of Reis–Bücklers and Thiel–Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography

Clinical Ophthalmology
08 Sep, 2020 ,

Researchers conducted this single-center, prospective, comparative case series to examine in vivo corneal changes of genetically confirmed Reis–Bücklers corneal dystrophy (RBCD) and Thiel–Behnke corneal dystrophy (TBCD) utilizing anterior segment optical coherence tomography (AS-OCT). 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] have been investigated. According to findings, the characteristic in vivo corneal microstructural changes associated with RBCD and TBCD can be clearly defined by AS-OCT. As a result, in vivo differentiation of RBCD and TBCD can be accomplished.

Source
Full content

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 penetrating 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 microstructural changes associated with RBCD and TBCD. As a result, in vivo differentiation of RBCD and TBCD can be achieved.