Fleck corneal dystrophy

Corneal dystrophy,fleck, Corneal dystrophy, Francois-Neetens speckles or flecked, Francois-Neetens speckled corneal dystrophy, FCD, CFD


Type of disease: Rare conditions

Fleck corneal dystrophy is a condition that occurs when there are many tiny, dot-like, white flecks scattered throughout the layers of the part of the eye called the corneal stroma. The corneal stroma is a layer of dense, connective tissue that is part of the clear outer layer of the eye, the cornea. Individuals generally do not have symptoms with this disorder and most people do not report any change in vision. The flecks that appear in the condition can start at birth or as early as 2 years of age, and do not generally increase throughout life.

Fleck corneal dystrophy is a genetic condition caused by mutations (changes) in the PIKFYVE gene. We inherit our genes in pairs, one from each parent typically. Fleck corneal dystrophy is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.

Fleck corneal dystrophy can be diagnosed by doing specific eye tests to look at the corneal stroma; specially, physicians will look for small white or gray areas on the stroma. Most people with the condition do not require treatment, and in the majority of cases the condition disappears on its own.

If you or a family member has been diagnosed with fleck corneal dystrophy, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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