About Congenital hereditary endothelial dystrophy type II
What is Congenital hereditary endothelial dystrophy type II?
Congenital hereditary endothelial dystrophy type II (CHED2) is a rare genetic 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 CHED2 typically experience vision problems, including blurred vision, sensitivity to light, and difficulty seeing at night. In some cases, the condition can lead to corneal scarring and vision loss. Treatment typically involves the use of eye drops and/or surgery.
What are the symptoms of Congenital hereditary endothelial dystrophy type II?
The symptoms of Congenital Hereditary Endothelial Dystrophy Type II (CHED2) vary from person to person, but generally include:
-Decreased vision, often with a decrease in visual acuity
-Corneal edema (swelling)
-Corneal opacities (cloudiness)
-Corneal thinning
-Corneal vascularization (blood vessels growing on the cornea)
-Corneal neovascularization (new blood vessels growing on the cornea)
-Corneal scarring
-Corneal ulceration
-Corneal perforation
-Corneal ectasia (bulging of the cornea)
-Corneal dystrophy (thickening of the cor
What are the causes of Congenital hereditary endothelial dystrophy type II?
Congenital hereditary endothelial dystrophy type II (CHED2) 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 development and functioning of the cornea. CHED2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the treatments for Congenital hereditary endothelial dystrophy type II?
1. Corneal transplantation: This is the most common treatment for Congenital Hereditary Endothelial Dystrophy Type II. It involves replacing the damaged corneal tissue with healthy donor tissue.
2. Intracorneal ring segments: This procedure involves inserting tiny plastic rings into the cornea to flatten it and improve vision.
3. Corneal collagen cross-linking: This procedure uses ultraviolet light and riboflavin to strengthen the cornea and reduce the risk of further damage.
4. Corneal grafting: This procedure involves replacing the damaged corneal tissue with healthy donor tissue.
5. Intraocular lens implantation: This procedure involves replacing the natural lens with an artificial lens to improve vision.
6. Refractive surgery: This procedure involves reshaping the
What are the risk factors for Congenital hereditary endothelial dystrophy type II?
1. Family history of CHED2
2. Mutation in the SLC4A11 gene
3. Female gender
4. Exposure to certain environmental toxins
5. Low birth weight
6. Premature birth
7. Low oxygen levels during birth
8. Exposure to certain medications during pregnancy
Is there a cure/medications for Congenital hereditary endothelial dystrophy type II?
At this time, there is no known cure for Congenital Hereditary Endothelial Dystrophy Type II (CHED2). 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.