Fleck corneal dystrophy
From Self-sufficiency
| Fleck corneal dystrophy | |
|---|---|
| Classification and external resources | |
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File:Fleck dystrophy 1.JPEG Appearance of the cornea by slit-lamp biomicroscopy (left image) and by confocal microscopy (right image) (Courtesy Dr. Charles N. McGhee) | |
| OMIM | 121850 |
Fleck corneal dystrophy (FCD; also Francois-Neetens speckled corneal dystrophy) is a rare form of human corneal dystrophy. It is caused by mutations in PIP5K3 gene. Small opacities, some of which resemble "flecks", are scattered in the stroma of the patients. Other opacities look more like snowflakes or clouds. The disease is non-progressive and in most cases asymptomatic, with mild photophobia reported by some patients. In a single case report, a corneal transplantation was performed for concurrent keratoconus, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.[1]
References
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<references />, or <references group="..." />- ↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576 Freely accessible. PMID 19236704.
