Corneal Dystrophy, Posterior Amorphous
Patient Information
Characteristics
Background and History
This form of corneal disease has only been described in a few families. It is one of a few corneal dystrophies that have other eye abnormalities.
Clinical Correlations
This seems to be a congenital disorder, that is, developmental abnormalities are present from birth. The iris may be partially attached to the cornea and the pupil may be abnormal. The most apparent feature though is a variable degree of clouding of the cornea. This is usually not significant enough to cause a decrease in vision although the amount of clouding varies widely.
Genetics
Inheritance
No genetic mutation has yet been identified. However, all reported families have had an inheritance pattern consistent with autosomal dominant transmission. That is, the disease seems to pass directly from parent to child with a probability of 50% for each child.
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 an eye doctor can diagnose this disorder. Most patients do well throughout their lives since this seems to be a nonprogresssive disorder but a few have required corneal transplantation to achieve good vision.
Web Resources
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