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.

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

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.

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.

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.

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.