OMIM ID:
Corneal Dystrophy, Lisch Epithelial
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Of the anterior epithelial dystrophies, this one is unusual in the absence of spontaneous corneal erosions. It is also the only one of this group to be an X-linked disorder. Onset occurs in childhood and by adulthood vision can be significantly reduced. Most individuals, however, retain vision in the range of 20/25 to 20/40 into the 7th and 8th decades. Gray, feathery opacities in the anterior cornea often appear in a band-like or whorled pattern. Vacuolization of the epithelial cells is responsible for this appearance but in Lisch dystrophy, these microcysts are empty compared to Reis-Bucklers, epithelial basement membrane, and Thiel-Behnke anterior dystrophies in which degenerative debris fills them. In spite of the X-linked inheritance pattern, both males and carrier females may have similar corneal opacities since the mutation is dominant.
Systemic Features
No systemic disease is associated with Lisch epithelial dystrophy.
Genetics
Inheritance
Corneal opacities are seen in both sexes, and no father to son transmission has been reported. This is a dominant X-linked disorder resulting from a mutation on the X chromosome (Xp22.3). No responsible gene has been identified.
Pedigree
X-linked dominant, father affected
X-linked inheritance patterns result when disease-causing mutations are located on the X chromosome. Males have one X chromosome while females have two. A mutation on the male's X chromosome frequently is lethal or renders him unable to reproduce. However, in rare cases when males have children, they can expect that all of then will inherit the condition.
X-linked inheritance patterns result when disease-causing mutations are located on the X chromosome. Males have one X chromosome while females have two. A mutation on the male's X chromosome frequently is lethal or at least renders them unable to reproduce. However, in rare cases when males have children, they can expect that all of then will inherit the condition.
X-linked dominant, mother affected
X-linked inheritance patterns result from mutations located on the X chromosome. Females have two X chromosomes of which only one carries a mutation in X-linked dominant disorders. This usually results in expression of the disease and women with a single mutation have the disorder caused by the mutation. Half of their offspring, male and female, will inherit the mutation. Men, with only one X chromosome, will always have the condition if they inherit the one with the mutation. Men would transmit it to all of their offspring. Without a modifying normal gene on a second X chromosome, X-linked dominant conditions are frequently lethal in such males. The result is a vertical transmission pattern, usually from female to female.
X-linked inheritance patterns result from mutations located on the X chromosome. Females have two X chromosomes of which only one carries a mutation in X-linked dominant disorders. This usually results in expression of the disease and women with a single mutation have the disorder caused by the mutation. Half of their offspring, male and female, will inherit the mutation. Men, with only one X chromosome, will always have the condition if they inherit the one with the mutation. Men would transmit it to all of their offspring. Without a modifying normal gene on a second X chromosome, X-linked dominant conditions are frequently lethal in such males. The result is a vertical transmission pattern, usually from female to female.