Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

Abstract

Purpose To describe a severe phenotype of Meesmann's epithelial corneal dystrophy (MECD) and to determine the underlying molecular cause.

A corneal tulip? Assessing corneal opacities in Lisch corneal epithelial dystrophy

“…The changes are often unilateral. This is different from Meesmann's epithelial dystrophy, where patients are symptomatic due to ocular surface disturbance and vision is typically unaffected, despite wide‐spread epithelial cysts (unless very severe) . It was interesting to note the small recurrent linear lesion seen at six‐months post‐operatively in our patient.…”

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization

“…Impression cytology performed in both individuals confirmed the diagnosis of LSCD by histological detection of goblet and inflammatory cells in corneal imprints and by immunocytochemical visualization of conjunctivalization using KRT7 as a marker [3] (Supplementary Material and Supplementary Figure 2). have been reported in Meesman corneal dystrophy patients presenting with corneal neovascularization as an additional feature to the classical phenotype [5]. Sanger sequencing however showed that the affected son of the proband was wild type (Supplementary Figure 5 3), indicating that the KRT12 variant in the proband is a benign polymorphism.…”

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

“…The recurrent European mutation in KRT12-p.Arg135Thr-causes a phenotype milder than the p.Leu132Pro mutation, which is associated with the presence of microcysts and corneal scarring. 19,20 Cells transfected with KRT12 bearing the p.Leu132Pro mutation produced less filamentous keratin than those with p.Arg135Thr KRT12, suggesting a greater disruption to normal keratin function. 20 Interestingly, patients with epidermolysis bullosa also present with mutations in helix-initiation and helix-termination motifs of keratin proteins.…”