About Congenital hereditary endothelial dystrophy type I
What is Congenital hereditary endothelial dystrophy type I?
Congenital hereditary endothelial dystrophy type I (CHED I) is a rare, inherited eye disorder that affects the cornea, the clear outer layer of the eye. It is caused by a mutation in the TCF4 gene, which is responsible for the production of a protein that helps maintain the structure and function of the cornea. People with CHED I typically experience decreased vision, corneal clouding, and sensitivity to light. Treatment typically involves the use of eye drops, contact lenses, and/or corneal transplantation.
What are the symptoms of Congenital hereditary endothelial dystrophy type I?
The symptoms of Congenital Hereditary Endothelial Dystrophy Type I (CHED I) include:
-Decreased vision in infancy or early childhood
-Corneal edema (swelling)
-Corneal clouding
-Corneal thinning
-Corneal vascularization (blood vessels growing on the cornea)
-Corneal scarring
-Corneal opacification (cloudiness)
-Corneal neovascularization (new blood vessels growing on the cornea)
-Corneal ulceration (open sores)
-Corneal perforation (holes in the cornea)
-Corneal melting (dissolution of the cornea)
-Corneal ectasia
What are the causes of Congenital hereditary endothelial dystrophy type I?
Congenital hereditary endothelial dystrophy type I (CHED-I) is a rare genetic disorder caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is involved in transporting chloride ions across cell membranes. Mutations in this gene lead to a decrease in the amount of chloride ions that can be transported, which affects the normal functioning of the cornea. This can lead to a range of symptoms, including clouding of the cornea, decreased vision, and sensitivity to light.
What are the treatments for Congenital hereditary endothelial dystrophy type I?
The primary treatment for Congenital Hereditary Endothelial Dystrophy Type I (CHED I) is corneal transplantation. This is a surgical procedure in which the damaged cornea is replaced with a healthy donor cornea. Other treatments may include medications to reduce inflammation, antibiotics to prevent infection, and artificial tears to keep the eye moist. In some cases, a corneal graft may be used to improve vision. In severe cases, a corneal transplant may be necessary.
What are the risk factors for Congenital hereditary endothelial dystrophy type I?
1. Genetic predisposition: Congenital hereditary endothelial dystrophy type I is an inherited disorder caused by mutations in the SLC4A11 gene.
2. Family history: CHED type I is more likely to occur in families with a history of the disorder.
3. Age: CHED type I is more common in infants and young children.
4. Gender: CHED type I is more common in males than females.
5. Ethnicity: CHED type I is more common in individuals of Asian descent.
Is there a cure/medications for Congenital hereditary endothelial dystrophy type I?
At this time, there is no known cure for Congenital Hereditary Endothelial Dystrophy Type I (CHED-I). However, there are medications that can be used to manage the symptoms of the condition. These medications include topical corticosteroids, cyclosporine, and topical non-steroidal anti-inflammatory drugs (NSAIDs). Additionally, some patients may benefit from laser treatments or corneal transplantation.