Background <p>Meesmann corneal dystrophy (MCD) is a rare autosomal dominant corneal disorder characterized by recurrent epithelial erosions. While secondary corneal amyloidosis (SCA) is well-documented in chronic inflammatory disorders, its occurrence in MCD has not been previously described.</p> Case <p>Here we first report a case of concurrent MCA and SCA, the diagnosis was confirmed through clinical evaluation, Anterior segment optical coherence tomography, in vivo laser confocal microscopy, and histopathological examination. Genetic testing identified a novel <i>KRT12</i> mutation (c.1292G&gt;C, p.R431P) in both the patient and her affected father, though the father exhibited no signs of SCA.</p> Conclusions <p>SCA may develop as a rare complication in patients with long-standing MCD, potentially complicating the diagnosis.</p>

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Secondary corneal amyloidosis in a patient with Meesmann corneal dystrophy

  • Jini Qiu,
  • Yue Li,
  • Rongrong Cai,
  • Chaoran Zhang

摘要

Background

Meesmann corneal dystrophy (MCD) is a rare autosomal dominant corneal disorder characterized by recurrent epithelial erosions. While secondary corneal amyloidosis (SCA) is well-documented in chronic inflammatory disorders, its occurrence in MCD has not been previously described.

Case

Here we first report a case of concurrent MCA and SCA, the diagnosis was confirmed through clinical evaluation, Anterior segment optical coherence tomography, in vivo laser confocal microscopy, and histopathological examination. Genetic testing identified a novel KRT12 mutation (c.1292G>C, p.R431P) in both the patient and her affected father, though the father exhibited no signs of SCA.

Conclusions

SCA may develop as a rare complication in patients with long-standing MCD, potentially complicating the diagnosis.