Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study

To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS).

This is a longitudinal, prospective cohort study that evaluated pediatric patients with genetically diagnosed ARAS. Fifty-eight eyes of 29 pediatric patients (12 patients, 17 controls) underwent a full ophthalmic examination. Corneal endothelial cell density (ECD) (cells/mm²), coefficient variation (CV) of cell area (polymegathism), the percentage of hexagonal cells (HEX) (pleomorphism), and central corneal thickness (CCT) were analyzed automatically using a noncontact specular microscopy.

The mean ECD was 2904 ± 355.48 cell/mm² in the ARAS group and 3263.20 ± 261.71 cell/mm² in the control group (p = 0.004). In the ARAS group, the mean CV was 46.53 ± 10.43, which was significantly higher than that in controls (p = 0.026). The mean HEX was 48.86 ± 14.71 in the ARAS group and 59.06 ± 10.64 in the control group (p = 0.038). The mean CCT was 565.26 ± 39.77 µm in the ARAS group and 579.66 ± 31.65 µm in the control group (p = 0.282). The comparison of endothelial cell characteristic of the ARAS group with 1-year follow-up is as follows: The mean ECD decreased from 2904 ± 355.48 cell/mm² to 2735 ± 241.58 cell/mm² (p = 0.003). The mean CV increased from 46.53 ± 10.43 to 47.93 ± 10.50 (p = 0.471). The mean HEX decreased from 48.86 ± 14.71 to 48.50 ± 10.06 (p = 0.916). The mean CCT decreased from 565.26 ± 39.77 µm to 542.86 ± 40.39 µm (p = 0.000).

Measurement of ECD and percentage of hexagonality can also be used as an indicator of the health of the corneal endothelium. In this study, the mean ECD and HEX were significantly lower in ARAS group than in age-matched pediatric controls. Polymegathism, which reflects cellular stress, was statistically significantly higher in ARAS group. The mean ECD and CCT decreased significantly at 1-year follow-up. This study may demostrated that endothelial damages and stress in ARAS patients appear in childhood and show a rapid increase with age.