Epithelial basement membrane dystrophy
Encyclopedia
Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye, sometimes included in the group of corneal dystrophies
. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive.
In some families autosomal dominant inheritance and point mutations in the TGFBI
gene encoding keratoepithelin have been identified, but according to the International Committee for Classification of Corneal Diseases (IC3D) the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies. In view of this, the more accurate designation of the disease is possibly not dystrophy but corneal degeneration.
The main pathological feature of the disease is thickened, multilaminar and disfigured basement membrane
of corneal epithelium
. The change in the structure affects the epithelium, some cells of which may become entrapped in the rugged membrane and fail to migrate to the surface where they should undergo desquamation
.
Corneal dystrophy (human)
Human corneal dystrophy is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the human eye called the cornea...
. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive.
In some families autosomal dominant inheritance and point mutations in the TGFBI
TGFBI
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
gene encoding keratoepithelin have been identified, but according to the International Committee for Classification of Corneal Diseases (IC3D) the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies. In view of this, the more accurate designation of the disease is possibly not dystrophy but corneal degeneration.
The main pathological feature of the disease is thickened, multilaminar and disfigured basement membrane
Basement membrane
The basement membrane is a thin sheet of fibers that underlies the epithelium, which lines the cavities and surfaces of organs including skin, or the endothelium, which lines the interior surface of blood vessels.- Composition :...
of corneal epithelium
Corneal epithelium
The corneal epithelium is made up of epithelial tissue and covers the front of the cornea. It acts as a barrier to protect the cornea, resisting the free flow of fluids from the tears, and prevents bacteria from entering the epithelium and corneal stroma.The corneal epithelium consists of several...
. The change in the structure affects the epithelium, some cells of which may become entrapped in the rugged membrane and fail to migrate to the surface where they should undergo desquamation
Desquamation
Desquamation , also called skin peeling, is the shedding of the outermost membrane or layer of a tissue, such as the skin.-Skin:Normal, nonpathologic desquamation of the skin occurs when keratinocytes, after moving apically over about 14 days, are individually shed unnoticeably...
.
Alternative names
- Map-dot-fingerprint dystrophy
- Cogan’s dystrophy
- Cogan microcystic epithelial dystrophy
- Anterior basement membrane dystrophy
External links
- Dystrophy, Map-dot-fingerprint - by Author: David Verdier, MD; eMedicineEMedicineeMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. The website is searchable by keyword and consists of approximately 6,800 articles, each of which is associated with one of 62 clinical subspecialty textbooks...
, 2009