KEGG   DISEASE: Fleck corneal dystrophy
Entry
H00957                      Disease                                
Name
Fleck corneal dystrophy;
Francois-Neetens speckled corneal dystrophy
Description
Fleck corneal dystrophy (FCD) is a rare corneal dystrophy characterized by multiple asymptomatic, non-progressive symmetric minute opacities 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
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H00957  Fleck corneal dystrophy
Pathway
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
hsa04145  Phagosome
hsa04810  Regulation of actin cytoskeleton
Gene
PIP5K3 [HSA:200576] [KO:K00921]
Other DBs
ICD-11: 9A70.Y
MeSH: C563256
OMIM: 121850
Reference
  Authors
Klintworth GK
  Title
Corneal dystrophies.
  Journal
Orphanet J Rare Dis 4:7 (2009)
DOI:10.1186/1750-1172-4-7
Reference
  Authors
Poulaki V, Colby K
  Title
Genetics of anterior and stromal corneal dystrophies.
  Journal
Semin Ophthalmol 23:9-17 (2008)
DOI:10.1080/08820530701745173
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