Keratoendotheliitis Fugax Hereditaria
Patient Information
Characteristics
Background and History
This hereditary disorder so far has been reported only in the Finnish population. It is manifest by recurrent attacks of inflammation affecting the cornea (windshield) of one or both eyes and only rarely results in significant vision loss.
Clinical Correlations
Attacks begin in childhood (median age 11 years) and have been diagnosed in children as young as 3 years of age. They typically last for several days during which the eye is sensitive to light, somewhat painful, and appears red. The vision may be blurry and hazy during this time but usually returns to normal after the acute episode. These attacks can recur one to two times a year and generally resolve without permanent damage. The attacks become less severe and less frequent in older individuals. However, older individuals after many recurrences may have some scarring in the cornea which results in a mild reduction of vision on a permanent basis.
There are no general health problems consistently associated with the corneal disease.
Genetics
Inheritance
A DNA change (mutation) has been identified in patients with this corneal disease. Parents with this disorder can transmit the mutation to their offspring with a 50% probability in an autosomal dominant 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
The diagnosis is made by an ophthalmologist based on a direct examination of the eye in children and young people during an acute episode of inflammation (or a direct gene test). The mild corneal scarring which may be present after midlife is nondiagnostic but can be helpful in large families in which the condition is known to occur.
No treatment has been reported to correct or present the disease but some patients have reported relief of symptoms with oral over-the-counter pain medicine such as aspirin or NSAIDs. Others have found the application of steroid medication directly to the eye to be helpful but this should only be done under the supervision of an eye doctor.
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