genotype-phenotype correlation in lattice corneal dystrophy: added diagnostic value of high-resolution OCT

Lattice corneal dystrophy (LCD) is a progressive genetic disorder involving stromal amyloid accumulation. While molecular genetics is the diagnostic gold standard, its accessibility is often limited. This study evaluates high-resolution anterior segment optical coherence tomography (HR-OCT) for LCD characterization and surgical planning. e analysed 30 patients with confirmed TGFBI mutations (R124C, H626R) using slit-lamp biomicroscopy, in vivo confocal microscopy (IVCM) (Heidelberg Engineering GmbH, Heidelberg, Germany), and 3 μm resolution REVO HR-OCT (Optopol Technology, Zawiercie Poland).

IVCM visualized "felt-like" amyloid filaments at the cellular level. HR-OCT provided precise mapping of deposit depth, epithelial mapping and identified Bowman's layer disruption, explaining clinical recurrent erosions. In post-keratoplasty cases, HR-OCT demonstrated high sensitivity in detecting early recurrence within donor tissue, often before changes became visible during slit-lamp examination.

HR-OCT provides enhanced tool for LCD phenotypic characterization, serving as a "pre-operative roadmap" to differentiate candidates for phototherapeutic keratectomy versus keratoplasty. While IVCM offers cellular details, the wide-field imaging of HR-OCT is highly useful and significant for longitudinal monitoring and comprehensive management of LCD.