OMIM ID:
Corneal Dystrophy, Stocker-Holt
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Stocker-Holt dystrophy is clinically somewhat similar to Meesmann corneal dystrophy but is caused by a different mutation and is therefore discussed separately here. Stocker and Holt in 1954 described this disorder among 20 descendents from Moravia who settled in North Carolina (Meesmann and Wilke's report in 1939 was based on patients in Germany). Fine, grayish punctate epithelial opacities were found in the epithelium anterior to Bowman’s throughout the entire cornea even in patients as young as 7 months old. These stain with fluorescein and are accompanied by fine linear opacities that appear in a whorled pattern. Outside of light sensitivity and glare reported by some patients, few are symptomatic. Spontaneous, recurrent epithelial erosions can occur. Corneal sensitivity is reduced. Contact lenses are poorly tolerated. Visual acuity is generally around 20/50 but can be significantly worse. Few require keratoplasty.
Meesmann dystrophy (122100) is superficially similar but the opacities are more numerous in the interpalpebral area and the surrounding epithelium is generally clear.
Systemic Features
No systemic problems are associated with this corneal disease.
Genetics
Inheritance
Stocker-Holt dystrophy is caused by mutations in KRT12 (17q12). Like Meesmann dystrophy (122100), it follows an autosomal dominant 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