Fleck corneal dystrophy

Fleck corneal dystrophy

Appearance of the cornea by slit-lamp biomicroscopy (left image) and by confocal microscopy (right image) (Courtesy Dr. Charles N. McGhee)
Classification and external resources
OMIM	121850

Fleck corneal dystrophy, also known as Francois-Neetens speckled corneal dystrophy, is a rare form of corneal dystrophy. It is caused by mutations in PIKFYVE 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

↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.

Types of corneal dystrophy (H18.5, 371.5)

Epithelial and subepithelial	Epithelial basement membrane dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal dystrophy Meesmann corneal dystrophy Subepithelial mucinous corneal dystrophy

Bowman's membrane	Reis–Bucklers corneal dystrophy Thiel-Behnke dystrophy

Stroma	Congenital stromal corneal dystrophy Fleck corneal dystrophy Granular corneal dystrophy Lattice corneal dystrophy Macular corneal dystrophy Posterior amorphous corneal dystrophy Schnyder crystalline corneal dystrophy

Descemet's membrane and endothelial	Congenital hereditary endothelial dystrophy Fuchs' dystrophy Posterior polymorphous corneal dystrophy X-linked endothelial corneal dystrophy

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