Gelatinous drop-like corneal dystrophy
Encyclopedia
Gelatinous drop-like corneal dystrophy (GDCD, subepithelial amyloidosis, primary familial amyloidosis) is a rare form of human corneal dystrophy
. A number of mutations causing this disease have been described in the TACSTD2
gene encoding Tumor-associated calcium signal transducer 2, but not all patients have these mutations, suggesting involvement of other genes.
The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium
. Patients suffer from photophobia, foreign body sensation in the cornea. The loss of vision is severe. The amyloid
nodules have been found to contain lactoferrin
, but the gene encoding lactoferrin is unaffected.
The disease was described by Nakaizumi as early as 1914.
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...
. A number of mutations causing this disease have been described in the TACSTD2
TACSTD2
Tumor-associated calcium signal transducer 2 is a protein that in humans is encoded by the TACSTD2 gene.This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It...
gene encoding Tumor-associated calcium signal transducer 2, but not all patients have these mutations, suggesting involvement of other genes.
The main pathological features in this dystrophy are mulberry-shaped gelatinous masses beneath the corneal epithelium
Epithelium
Epithelium is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. Epithelial tissues line the cavities and surfaces of structures throughout the body, and also form many glands. Functions of epithelial cells include secretion, selective...
. Patients suffer from photophobia, foreign body sensation in the cornea. The loss of vision is severe. The amyloid
Amyloid
Amyloids are insoluble fibrous protein aggregates sharing specific structural traits. Abnormal accumulation of amyloid in organs may lead to amyloidosis, and may play a role in various neurodegenerative diseases.-Definition:...
nodules have been found to contain lactoferrin
Lactoferrin
Lactoferrin , also known as lactotransferrin , is a multifunctional protein of the transferrin family. Lactoferrin is a globular glycoprotein with a molecular mass of about 80 kDa that is widely represented in various secretory fluids, such as milk, saliva, tears, and nasal secretions...
, but the gene encoding lactoferrin is unaffected.
The disease was described by Nakaizumi as early as 1914.
Alternative names
- Corneal amyloidosis
- Amyloid corneal dystrophy, Japanese type
- Lattice corneal dystrophy type III
- Familial subepithelial corneal amyloidosis