Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum

The purpose of this study was to compare the corneal endothelial characteristics in Axenfeld anomaly (AXA), Rieger anomaly (RGA), and Axenfeld-Rieger anomaly/syndrome with age-matched healthy controls.

This is a retrospective, comparative case-control study of 52 eyes of 30 patients with AXA/RGA and AXA/S and 36 controls.

Median age at endothelial imaging was 21.5 years (interquartile range, 13.8-33.3 years). In the study group, the mean endothelial cell density (ECD) was 2112.4 ± 78.5 cells/mm 2 , the mean cell area (MCA) was 526.9 ± 28.5 μm 2 , and the coefficient of variation of cell size was 41.2 ± 1.8%. The ECD was significantly (all, P < 0.0001) lower than controls, while MCA ( P < 0.0001), SD of cell size ( P < 0.0001), and maximum cell area ( P = 0.0007) were significantly higher than controls. Four eyes of 3 patients had guttae on slitlamp evaluation and endothelial imaging. There were no differences in the corneal endothelial characteristics among the clinical subtypes.

Patients with AXA, RGA, and Axenfeld-Rieger anomaly/syndrome have lower ECD and increased MCA compared with normal eyes. The reduced ECD associated with inherent anterior segment alterations can predispose to the risk of postcataract surgery endothelial decompensation in these eyes. The association of guttae in some eyes needs further investigational studies.