In vivo imaging of Reis–Bücklers and Thiel–Behnke corneal dystrophies using anterior segment optical coherence tomography
Clinical Ophthalmology Sep 10, 2020
Nishino T, Kobayashi A, Mori N, et al. - 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.
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