Advanced Anterior Eye Segment Imaging for Ichthyosis

Abstract

The purpose of this study was to describe ocular surface and anterior eye segment findings in various types of ichthyoses. Methods: This was a single-center prospective observational study. The study group consisted of five patients (P1–P5) aged 13–66 years. Multimodal imaging was performed, including slit-lamp examinations, swept-source optical coherence tomography (SS-OCT), and in vivo confocal microscopy (IVCM). Results: All patients were diagnosed with moderate-to-severe dry eye disease (DED). The corneas showed a significant pattern of irregularity, with a significant difference between the corneal thickness at the apex (CAT) and the corneal thinnest thickness (CTT), exceeding 375 µm. Three patients were diagnosed with ectasia patterns based on SS-OCT. All patients showed abnormalities in at least one Fourier index parameter for at least one eye at 3 or 6 mm in the keratometric, anterior, or posterior analyses. IVCM examinations revealed changes in all corneal layers. Conclusions: By combining the results of multimodal imaging, we were able to detect preclinical abnormalities, distinguish characteristic changes common to ichthyosis, and reveal the depth and characteristics of corneal abnormalities. Therefore, patients with ichthyosis should be examined for DED and ectatic disorders early in clinical practice.