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Fleck corneal dystrophy
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
To report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD).
To evaluate the value of in-vivo confocal microscopy (CM) in the diagnosis of Fleck corneal dystrophy.
The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy.