Keratoendotheliitis fugax hereditaria

Keratoendotheliitis Fugax Hereditaria is a rare, genetic eye disorder characterized by recurrent, transient attacks of corneal endotheliitis. These attacks are often associated with mild to severe eye pain, photophobia (sensitivity to light), tearing, and decreased vision. The condition is inherited in an autosomal dominant pattern, meaning that a mutation in just one of the two copies of the gene in each cell is sufficient to cause the disorder.

Symptoms and Diagnosis

The primary symptom of Keratoendotheliitis Fugax Hereditaria is sudden onset of eye pain, which is often accompanied by blurred vision, halos around lights, and a red, irritated eye. These symptoms are due to inflammation of the cornea's endothelial layer, which is responsible for maintaining the cornea's clarity. Attacks can last from several hours to a few days and typically resolve spontaneously without leaving permanent damage to the cornea.

Diagnosis of Keratoendotheliitis Fugax Hereditaria is primarily clinical, based on the characteristic symptoms and family history. Detailed eye examination, including slit lamp examination, may reveal characteristic findings during an attack. Genetic testing can confirm the diagnosis by identifying a mutation in the gene associated with the condition.

Treatment

There is no cure for Keratoendotheliitis Fugax Hereditaria, and treatment is aimed at managing symptoms during attacks. Topical corticosteroids may be prescribed to reduce inflammation, and analgesics may be used to manage pain. Patients are also advised to avoid triggers that may precipitate an attack, although these can vary widely among individuals.

Genetic Aspects

Keratoendotheliitis Fugax Hereditaria is inherited in an autosomal dominant manner. This means that having a mutation in only one of the two copies of the gene responsible for the condition in each cell is enough to cause the disorder. The gene implicated in Keratoendotheliitis Fugax Hereditaria has not been definitively identified, but it is believed to involve pathways regulating corneal endothelial cell function.

Epidemiology

Due to its rarity, the exact prevalence of Keratoendotheliitis Fugax Hereditaria is unknown. It has been reported in multiple families worldwide, suggesting that it affects individuals of diverse ethnic backgrounds.

See Also

• Corneal endothelium
• Endotheliitis
• Genetic disorder
• Eye pain