Multimodal Imaging of Genetically Confirmed X-Linked Endothelial Corneal Dystrophy.

Purpose: To report clinical features of genetically confirmed x-linked endothelial corneal dystrophies using multimodal corneal imaging.

Methods: Four corneas of a 22-year-old male and a 58-year-old female patient with x-linked endothelial corneal dystrophy were examined with slit-lamp biomicroscopy, Scheimpflug tomography, anterior segment optical coherence tomography, in vivo corneal confocal microscopy, and specular microscopy. Clinical features and multimodal imaging findings were analyzed.

Results: Best-corrected visual acuity (in logMAR) was 0.2 (OD/OS) in the female, and 0.3 (OD) and 0.5 (OS) in the male. Clinical examination demonstrated moon crater-like lesions of the posterior cornea in the female patient, whereas the male patient showed diffuse stromal opacities with pronounced moon crater-like changes. Anterior segment optical coherence tomography revealed single hyperreflective lesions at the level of Descemet membrane and endothelium in the female patient (central corneal thickness: OD: 580 μm/OS: 586 μm), whereas the male patient demonstrated a stronger hyperreflective thickening of Descemet membrane (central corneal thickness: OD: 659 μm/OS: 676 μm). In vivo corneal confocal microscopy revealed corneal guttae in the female patient, whereas the male patient's findings were subepithelial and stromal hyperreflective fibrosis, parallel, thin, long hyporeflective bands within the corneal stroma, hyperreflectivity at level of Descemet membrane, and hyperreflective endothelial cells with pleomorphism, polymegethism, and enlarged nuclei. Furthermore, Descemet membrane revealed hyporeflective moon crater-like lesions with hyperreflective material in its center.

Conclusions: X-linked endothelial corneal dystrophy shares clinical and diagnostic features with other endothelial corneal dystrophies, raising the question of whether it is a distinct subtype or the result of multiple coexisting corneal dystrophies causing a heterogenous clinical picture. Additional genetic testing is necessary to identify the causative genetic background.