Concordance Between Clinical and Pathological Diagnosis of Stromal Corneal Dystrophies in a Large Case Series.

Abstract

Purpose: To assess the frequency and histopathological features of stromal corneal dystrophies. In addition, we sought to evaluate the concordance between the clinical diagnoses provided by ophthalmologists and the pathological reports.

Methods: We retrospectively analyzed all cases of stromal corneal dystrophies between 1996 and 2022. Data were collected from pathological reports of corneal buttons obtained from penetrating keratoplasties (PK). Clinical and pathological diagnoses along with demographic information were recorded. Concordance between clinical and pathological diagnoses was assessed using frequency analysis and Cohen kappa coefficient.

Results: Histopathological review of 1440 corneal specimens from PK revealed 56 (3.8%) stromal corneal dystrophies in 53 patients. The most common dystrophy found was lattice corneal dystrophy (LCD), present in 30 specimens (53.6%), followed by granular corneal dystrophy type 2 in 14 specimens (25.0%), granular corneal dystrophy type 1 in 7 specimens (12.5%), and macular corneal dystrophy in 5 specimens (8.9%). Concordance between clinical and pathological diagnoses was observed in 37 of 45 cases, resulting in an overall concordance rate of 82.2% with a Cohen kappa coefficient of 0.64.

Conclusions: The concordance rate of 82.2% and Cohen kappa coefficient of 0.64 indicate strong agreement between clinical and pathological diagnoses of stromal corneal dystrophies. However, despite ranking as the second most common dystrophy, the absence of clinical diagnoses for granular corneal dystrophy type 2 highlights the critical need to use both Masson Trichrome and Congo red stains when granular or lattice-like deposits are present in the cornea to ensure precise and reliable diagnosis.