Fleck corneal dystrophy, also known as ''Francois-Neetens speckled corneal dystrophy'', is a rare form of

corneal dystrophy Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect ...

. 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 Corneal transplantation, also known as corneal grafting, is a surgical procedure where a damaged or diseased cornea is replaced by donated corneal tissue (the graft). When the entire cornea is replaced it is known as penetrating keratoplasty a ...

was performed for concurrent

keratoconus Keratoconus is an eye disorder in which the cornea, the transparent front part of the eye, gradually thins and bulges outward into a cone shape. This causes distorted vision, including blurry vision, double vision, increased nearsightedness, ...

, and at 10 years follow-up there was still no evidence of the inclusions in the stroma.

References

External links

Disorders of sclera and cornea {{Genetic-disorder-stub}