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Clinical phenotype
Incidence |
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Corneal Features |
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Symptoms |
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Credit: Mr Stephen Tuft, consultant ophthalmologist, Moorfields Eye Hospital, London
Genetics
Gene (OMIM no.) and associated function | |
Inheritance pattern |
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
Related links
- General management of corneal dystrophies
- Research in corneal dystrophies
- Research Opportunities at Moorfields Eye Hospital UK
- Searching for current clinical research or trials
Further information and support
References
- 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
- 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