Corneal Dystrophy, Fleck
Patient Information
Characteristics
Background and History
Many gene mutations cause corneal disease, generally called dystrophies (degenerations). Some cause a diffuse cloudiness but others like this one causes more discrete opacities. All of them can impact vision as the normally clear windshield of the eye (cornea) becomes variably opaque and blocks some of the light entering the eye.
Clinical Correlations
A gene mutation causes deposition of abnormal material in the cornea. Multiple small opacities appear throughout the normally clear cornea. They may be few in number but sometimes in such quantities that they block some of the light that normally would enter the pupil. These opacities may appear flat, round or oval, and sometimes resemble snowflakes. No systemic disease is associated.
Genetics
Inheritance
This is an autosomal dominant disorder in which the mutation is passed directly from parent to child in a vertical pattern.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
Many individuals who inherit this mutation have no vision problems and others are minimally affected. Life span is normal and treatment is usually not required.
Web Resources
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