Anterior Segment Findings in Patients With Osteogenesis Imperfecta: A Case-Control Study

To evaluate the anterior segment parameters in patients with osteogenesis imperfecta (OI) compared with healthy control subjects.

Seventeen patients with OI and 19 age-matched healthy controls were included into this cross-sectional case-control study. Corneal topographic, topometric and Belin-Ambrósio Enhanced Ectasia Display III analysis, corneal densitometry (12-mm corneal diameter), and lens densitometry measurements were obtained by using the Pentacam HR-Scheimpflug imaging system (Oculus, Wetzlar, Germany). The corneal endothelial cell properties were determined by specular microscopy.

In comparison to the control group, patients with OI had significantly higher front astigmatism (0.8 ± 0.4 vs. 1.4 ± 1.1 mm, P = 0.026), thinner thinnest corneal thickness (556.4 ± 32.7 μm vs. 482.5 ± 66.9 μm, P = 0.002), smaller corneal volume (62.4 ± 3.5 mm vs. 53.7 ± 6.4 mm, P < 0.001), lower anterior chamber depth (3.2 ± 0.3 mm vs. 3.0 ± 0.2 mm, P = 0.009), higher index of vertical asymmetry (0.1 ± 0.04 vs. 0.2 ± 0.11, P < 0.001), higher posterior elevation (6.0 ± 2.7 μm vs. 11.9 ± 7.8 μm, P = 0.002), lower maximum Ambrósio relational thickness indice (456.6 ± 67.5 vs. 365.6 ± 115.7, P = 0.009), and higher final "D" value (0.7 ± 0.4 vs. 2.0 ± 1.6, P = 0.002). The corneal and lens densitometry values were similar in all concentric zones and layers in both groups except that 6 to 10 mm in the center. Corneal densitometry was higher in eyes with OI than that in the control group (9.8 ± 1.7 and 8.8 ± 1.0, P = 0.010). There was no difference in endothelial cell morphology between the groups (P > 0.05).

The morphologic parameters determined on the corneal analysis are in general agreement with the known pathophysiology of OI. Corneal analysis may prove useful in monitoring patients with OI in clinical practice.