title: Granular corneal dystrophy type 2 is associated with morphological abnormalities of meibomian glands.
abstract: OBJECTIVE
  To investigate morphological changes in meibomian glands in patients with granular corneal dystrophy type 2 (GCD2) using non-invasive meibography.
  
  
  METHODS
  Eleven patients (3 men and 8 women) with GCD2, and sex-matched and age-matched healthy volunteers as a controls were enrolled in this study. The diagnosis of GCD2 was confirmed by transforming growth factor β-induced (TGFBI) gene analysis using direct sequencing in exon 4 of TGFBI gene. Meibography was performed in the right eye of the studied cases. Meiboscore was determined according to the morphology of meibomian gland and classified into four grades; grade 0 (no meibomian gland loss), grade 1 (loss less than one-third the total area of meibomian glands), grade 2 (area loss between one-third and two-thirds of the total area), and grade 3 (area loss greater than two-thirds of the total).
  
  
  RESULTS
  R124H mutation was detected in all patients with GCD2. Extinguishing or shortening of the meibomian glands was observed in patients with GCD2. The meiboscore was 3.8±1.3 in patients with GCD2 and 1.3±1.1 in the control group, showing significant difference between two groups (Mann-Whitney U-test, p=0.042).
  
  
  CONCLUSIONS
  In GCD2, corneal deposits, and also morphological abnormalities of meibomian glands, such as obstruction or shortening, were found. Since abnormal phospholipid deposition is noted in GCD2, these results are interesting because phospholipid is possibly secreted from the meibomian gland.
authors.forename: Tohru
authors.initials: T
authors.lastname: Sakimoto
mesh_terms: D000368:Aged; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005141:Eyelid Diseases / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008537:Meibomian Glands / Q000000981:diagnostic imaging / Q000473:pathology*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
keywords: Cornea; Eye Lids