Corneal Dystrophy, Subepithelial Mucinous
Patient Information
Characteristics
Background and History
Degeneration of the cornea (the clear windshield of the front of the eye), sometimes called corneal dystrophy, often interferes with the normal transparency of this tissue and causes blurry vision. This can follow trauma to the cornea or inflammatory disease in the eye, but more often is caused by a gene mutation.
Clinical Correlations
This is an extremely rare disorder, so far only reported in one large kindred. The primary symptoms early in life result from ‘erosions’ or defects in the surface of the cornea which causes irritation and severe pain. These are more common early in life and tend to subside during adolescence and later. Vision up to the fifth decade of life is generally near normal but subsequently it becomes more blurry as a result of abnormal deposits causing a cloudiness of the cornea. No systemic abnormalities have been found.
Genetics
Inheritance
This is an autosomal dominant disorder with a vertical pattern of inheritance as affected parents can pass the disease on directly to their children. The causative mutation has not 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
This disorder can only be diagnosed by an ophthalmologist because of its resemblance to other forms of corneal clouding. The prognosis is good for vision until midlife but after that a corneal transplant may be needed to restore good vision. Insufficient numbers of transplants have been performed to determine the success rate.
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