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Fleck corneal dystrophy: for professionals


Clinical phenotype

Incidence
  • Unknown
Corneal Features
  • Likely congenital and non-progressive
  • Scattered minute dots and larger oval grey-white opacities in all stromal layers
  • Intervening cornea is clear
  • No epithelial or endothelial involvement
Symptoms
  • Mildest form of corneal dystrophy
  • Usually asymptomatic or mild photophobia with normal vision
  • Tend to be diagnosed incidentally
Multiple scattered grey opacities throughout the cornea. The corneal surface in between the opacities are clear.
Scattered grey opacities of varying size within the whole thickness of the corneal stroma (arrow). The intervening stroma is clear.

Credit: Mr Stephen Tuft, consultant ophthalmologist, Moorfields Eye Hospital, London

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Genetics

Gene (OMIM no.) and associated function
  • PIKFYVE (#609414)
  • Encodes an enzyme called phosphoinositide kinase (FYVE-type zinc finger containing)
  • Regulates the trafficking and sorting of peripheral endosomes by controlling the morphogenesis and function of multivesicular bodies[1,2]
Inheritance pattern

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Diagnosis

Fleck corneal dystrophy (FCD) rarely causes any serious visual symptoms and is usually diagnosed incidentally on routine examination. Genetic testing may be undertaken to facilitate genetic counselling and obtain a molecular diagnosis. However, patients often do not pursue this due to the mild nature of FCD.

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Management

  • Patients do not usually require any interventions

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Further information and support

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References

  1.  Li S, Tiab L, Jiao X, et al. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. Am J Hum Genet. Jul 2005;77(1):54-63. doi:10.1086/431346
  2.  Gee JA, Frausto RF, Chung DW, et al. Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy. Mol Vis. 2015;21:1093-100

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Updated on November 30, 2020
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