Question: What are the genetic changes related to Fuchs endothelial dystrophy ?
Answer: The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified regions of a few chromosomes and several genes that they think may play a role in the development of Fuchs endothelial dystrophy, but many of these associations need to be further tested. Fuchs endothelial dystrophy affects a thin layer of cells that line the back of the cornea, called corneal endothelial cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision. Fuchs endothelial dystrophy occurs when the endothelial cells die, and the cornea becomes swollen with too much fluid. Corneal endothelial cells continue to die over time, resulting in further vision problems. It is thought that mutations in genes that are active (expressed) primarily in corneal endothelial cells or surrounding tissue may lead to the death of corneal endothelial cells, resulting in Fuchs endothelial dystrophy. Some cases of the early-onset variant of Fuchs endothelial dystrophy are caused by mutations in the COL8A2 gene. This gene provides instructions for making a protein that is part of type VIII collagen. Type VIII collagen is largely found within the cornea, surrounding the endothelial cells. Specifically, type VIII collagen is a major component of a tissue at the back of the cornea, called Descemet's membrane. This membrane is a thin, sheet-like structure that separates and supports corneal endothelial cells. COL8A2 gene mutations that cause the early-onset variant of Fuchs endothelial dystrophy lead to an abnormal Descemet's membrane, which causes the cells to die and leads to the vision problems in people with this condition. Mutations in unidentified genes are also likely to cause the early-onset variant of Fuchs endothelial dystrophy. The genetic causes of the late-onset form of the disorder are unknown.
Source: GHR

Question: Is Fuchs endothelial dystrophy inherited ?
Answer: In some cases, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is apparent in some situations in which the condition is caused by alterations in an unknown gene. In many families, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family.
Source: GHR

Question: What are the treatments for Fuchs endothelial dystrophy ?
Answer: These resources address the diagnosis or management of Fuchs endothelial dystrophy: - Duke Eye Center: Corneal Disease - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial 1 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 2 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 3 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 4 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 5 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 6 - Genetic Testing Registry: Corneal dystrophy, Fuchs endothelial, 7 - MedlinePlus Encyclopedia: Fuchs Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR