title: Corneal decompensation in recessive cornea plana.
abstract: OBJECTIVE
  To report corneal decompensation in 3 patients with recessive cornea plana.
  
  
  METHODS
  Retrospective case series.
  
  
  RESULTS
  An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]).
  
  
  CONCLUSIONS
  The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation.
authors: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
authors: Arif O
authors: AO
authors: Khan
authors: Mohammed A
authors: MA
authors: Aldahmesh
authors: Saeed
authors: S
authors: Al-Gehedan
authors: Brian F
authors: BF
authors: Meyer
authors: Brain F
authors: BF
authors: Meyer
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D002648:Child; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C490948:KERA protein, human; D011509:Proteoglycans