Corneal Dystrophy, Recurrent Erosions
Patient Information
Characteristics
Background and History
The history of this disorder is unknown. Certainly scratches on the cornea must have been known since antiquity but their spontaneous origin and heritability probably not.
Clinical Correlations
The outstanding feature of this disease is, of course, the spontaneously recurring painful erosions of the most anterior cell layer of the cornea, the clear part of the eye that acts as a windshield. These are localized as in a small spot instead of in the configuration of traumatic scratches which are usually linear. They may begin as early as the first year of life but fortunately tend to recur less as patients get older. They are difficult to treat and may last up to a week. In this disorder, there is no other known corneal or systemic disease. However, certain other corneal dystrophies predispose to such erosions as well and always without known trauma.
Genetics
Inheritance
Reported families have all fit the pattern of autosomal dominant inheritance. No responsible genetic mutation has been identified.
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
Only your eye doctor can determine the nature of the corneal disease that may be responsible as certain other corneal dystrophies can cause similar symptoms. Long term outlook is good since the recurrences become less frequent with age and vision is minimally affected except during the acute episodes when many patients experience not only pain, but tearing and light sensitivity as well. These may result from lack of sleep, or exposure to sunlight, dust, and smoke. Most eye doctors will treat with hypertonic drops and patching.
Often the erosions occur upon awakening in the morning when the lids are somewhat adherent to the cornea. It has been recommended that gentle rubbing of the lids before opening or even using eye lubricant drops at that time might have some preventative benefit.
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