Anterior Segment Characteristics In Patients With Pseudoxanthoma Elasticum

Keratoconus (KTC) is a multifactorial disorder involving genetic, metabolic, and environmental factors. Connective tissue disorders are generally considered risk factors for KTC. Pseudoxanthoma Elasticum (PXE) is an autosomal recessive disorder affecting elastic fibers mainly in the skin, eyes, and blood vessels caused by mutations in the ABCC6 gene. The aim of this study is to evaluate anterior segment parameters and corneal aberrations in patients with PXE and to compare the findings with those of healthy individuals.

Single-center study in Centro Hospitalar Universitário de São João (Porto, Portugal), a tertiary university hospital.

A retrospective selection of patients currently followed for PXE in our department was reviewed. Age- and sex-matched healthy individuals with no known ophthalmologic disease formed the control group. All patients underwent comprehensive ophthalmic assessments, including slit-lamp examination, anterior segment examination using Pentacam® and Anterion® and endothelial cell density calculation.

This study was performed on 16 eyes of 8 patients with PXE (7 women and 1 man) and 16 eyes of 8 healthy patients (7 women and 1 man). The median age was similar between the two groups. Patients with PXE had a significantly higher mean anterior cornea keratometry (44.731±1.044 versus 43.363±1.309; p=0.003), maximum keratometry (46.044±1.265 versus 44.481±1.636; p=0.005), mean posterior cornea keratometry (MD=-6.450 IQR=0.2 versus MD=-6.300 IQR=0.3; U=59.000; p=0.008) and BAD-D index values (1.49±0.71 versus 0.97±0.46; p=0.021). In relation to the Zernicke analysis, root mean square higher-order aberrations was higher in PXE patients (MD=0.500 IQR=0.345 versus MD=0.387 IQR=0.257; U=64.500; p=0.017).

Our study demonstrated that patients with PXE have different anterior segment parameters and corneal aberrations compared to healthy controls. These results should be supported by further studies, with a larger sample.