Fleck corneal dystrophy

Common Name(s)

Fleck corneal dystrophy

Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans (summary by {7:Kawasaki et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fleck corneal dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fleck corneal dystrophy" returned 6 free, full-text research articles on human participants. First 3 results:

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.
 

Author(s): Jessica A Gee, Ricardo F Frausto, Duk-Won D Chung, Chulaluck Tangmonkongvoragul, Derek J Le, Cynthia Wang, Jonathan Han, Anthony J Aldave

Journal:

 

To report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD).

Last Updated: 23 Sep 2015

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A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.
 

Author(s): Satoshi Kawasaki, Kenta Yamasaki, Hiroko Nakagawa, Katsuhiko Shinomiya, Mina Nakatsukasa, Yoshihide Nakai, Shigeru Kinoshita

Journal: Mol. Vis.. 2012 ;18():2954-60.

 

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.

Last Updated: 4 Jan 2013

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A novel PIKFYVE mutation in fleck corneal dystrophy.
 

Author(s): Andreas Kotoulas, Haris Kokotas, Konstantinos Kopsidas, Konstantinos Droutsas, Maria Grigoriadou, Hasret Bajrami, Daniel F Schorderet, Michael B Petersen

Journal: Mol. Vis.. 2011 ;17():2776-81.

 

To report the findings of the clinical and molecular evaluation in a Greek family with fleck corneal dystrophy (CFD).

Last Updated: 8 Nov 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fleck corneal dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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