KEGG   DISEASE: H00957Help
Entry
H00957                      Disease                                

Name
Fleck corneal dystrophy (FCD);
Francois-Neetens speckled corneal dystrophy
Description
Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute flecks disseminated throughout the corneal stroma. FCD does not affect vision and does not require treatment, but mild photophobia has been reported. Histopathology of the affected areas showed that the flecks correspond to areas of swollen keratocytes with cytoplasmic vesicles that contain lipids and mucopolysaccharides. FCD has been associated with mutations in the PIP5K3 gene encoding for an enzyme with a dual specificity that has both protein and lipid kinase activity.
Category
Eye disease
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Phagosome
Regulation of actin cytoskeleton
Gene
PIP5K3 [HSA:200576] [KO:K00921]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19236704 (description, gene)
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
Reference
PMID:18214787 (description, gene)
  Authors
Poulaki V, Colby K
  Title
Genetics of anterior and stromal corneal dystrophies.
  Journal
Semin Ophthalmol 23:9-17 (2008)

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