Purchase this article with an account.
Qingfeng Liang, Xuguang Sun, Zhiqiang Pan, Antoine Labbe; Phenotypic characterization of Reis-Bücklers corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2598.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To determine the phenotype of Reis-Bücklers corneal dystrophy (RBCD) using biomicroscopy, in vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT), and light and electron microscopy.
Five patients from a Chinese family with clinical RBCD and TGFBI gene mutations were evaluated. All patients underwent complete ophthalmogic examinations including slit-lamp biomicroscopy, IVCM and AS-OCT analysis. After penetrating keratoplasty, corneal buttons were examined under light and transmission electron microscopy.
Slit-lamp biomicroscopy showed irregularly ring-shaped and geographic grey-white opacities arranged symmetrically at or just near the level of Bowman's membrane in all affected eyes. Using IVCM, Bowman’s membrane was replaced by a granular and irregular hyper-reflective material without any shadows. In the anterior stroma next to the Bowman’s membrane, amyloid-like hyper-reflective material was also observed. AS-OC showed highly reflective deposits concentrated primarily at the level of Bowman's membrane. Analysis of corneal buttons under light microscopy revealed that Bowman's membrane was replaced by a granular tissue, which extended into the anterior corneal stroma. Using electronic microscopy, rod-shaped bodies were observed within this granular tissue.
Although genetic analysis might facilitate precise diagnosis and corneal dystrophy classification, these results suggest that IVCM and AS-OCT may be a useful adjunct to slit lamp biomicroscopy for the diagnosis and management of RBCD.
This PDF is available to Subscribers Only