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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 16/06/2006
Symbol CFD
Location 2q33.3
Name corneal fleck dystrophy
Other name(s) Francois-Neetens speckled or flecked
Corresponding gene PIKFYVE
Other symbol(s) CDFN
Main clinical features
  • speckled or flecked, stromal dystrophy of the cornea, scattered tiny white flecks occurring at all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate, asymptomatic
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein affect the C-terminal part, eliminating both the spectrin repeats and the PIPKc sequence