Corneal Dystrophy, Stocker-Holt
Patient Information
Characteristics
Background and History
The cornea is the normally clear ‘windshield’ of the eye. A number of gene mutations lead to deposits or cloudiness of this tissue which causes blurry vision and sometimes irritation and discomfort. This type of dystrophy (degeneration) was first described by American ophthalmologists Frederick W. Stocker and L. Byerly Holt in 1954 among a group of descendents from Moravia living in North Carolina.
Clinical Correlations
Small cyst-like opacities may appear in the cornea as early as the first year of life and are often accompanied by irritation of the eye and light sensitivity. Spontaneous defects in the anterior surface of the cornea often cause severe pain, burning, and tearing. Other patients may have few symptoms. The cysts may appear in a whorled or wedge-shaped pattern. This is a progressive disease and vision can become more blurred later in life due to scarring
Genetics
Inheritance
This is an autosomal dominant disorder in which parents may pass the disease directly to their children in a vertical 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
This disorder can only be diagnosed by your ophthalmologist since it requires a detailed eye examination to detect. It must be distinguished from certain other corneal dystrophies that can cause similar symptoms. Contact lenses are poorly tolerated. The prognosis for vision is usually good although some patients experience more blurriness later in life as the cornea may become scarred. However, few patients require corneal transplants.
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