Phenotypic characterization of Reis-Bücklers corneal dystrophy

Abstract

 

Purpose

 

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.

 

Methods

 

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.

 

Results

 

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.

 

Conclusions

 

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.

 

Keywords: 552 imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • 479 cornea: clinical science