Pathophysiology of ocular manifestations in Wilson’s disease and its management

Table 1 Diagnostic performance and clinical utility of anterior segment imaging modalities for detecting Kayser-Fleischer rings in Wilson disease

Modality	Diagnostic sensitivity1	Diagnostic specificity1	Advantages	Limitations
Slit lamp biomicroscopy	High in clinically evident Kayser–Fleischer rings; reduced in early/subclinical cases	High when characteristic peripheral corneal pigmentation is present	First-line clinical tool; widely available; real-time examination; cost-effective	Operator dependent; limited detection of subtle peripheral deposition; subjective assessment
Anterior segment optical coherence tomography	Moderate-high for hyperreflective deposits at Descemet’s membrane	High	Non-contact; objective structural documentation; reproducible imaging; useful for monitoring regression	Limited cellular resolution; peripheral artifacts; lack of standardized diagnostic cut-offs
In vivo confocal microscopy	High for hyperreflective granular deposits at Descemet’s level	High	Cellular-level imaging; detects microstructural changes; useful in equivocal cases	Contact technique; small field of view; limited availability; not routinely used for screening
Scheimpflug imaging	Moderate (based on corneal densitometry changes)	Moderate-high	Objective densitometry; three-dimensional anterior segment analysis; non-contact	Lower sensitivity for early deposits; limited cellular detail; peripheral ring may be underestimated

¹Sensitivity and specificity estimates are derived from individual observational studies; pooled quantitative meta-analytic estimates are limited due to heterogeneity in study design, imaging protocols, and reference standards.