Corneal Dystrophy, Reis-Bücklers
Patient Information
Characteristics
Background and History
The cornea is the normally transparent front part (windshield) of the eye. A number of gene mutations can cause cloudiness of the cornea which leads to blurry vision and irritation. This type is named for two German ophthalmologists, Heinrich Maria Wilhelm Reis and Max Bücklers who first described it in separate papers in the early part of the 20th century.
Clinical Correlations
Irregularly confluent opacities often appear in the first decade of life and even then can cause some clouding of vision. The surface layer of the eye often breaks down causing severe pain, tearing, light sensitivity, and discomfort. These episodes may become less frequent after the end of the second decade. However, the corneal cloudiness continues to worsen and may require surgical treatment.
Genetics
Inheritance
This is an autosomal dominant disorder caused by a gene mutation. It can be passed in a vertical pattern directly from parent to child with a probability of 50%.
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
Reis-Bücklers corneal dystrophy can only be diagnosed by an ophthalmologist. The surface irregularities causing discomfort may respond to conservative treatment using drops or bandages. However, surgical treatment of the cornea may be required in severe cases but the breakdown of tissue can recur.
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