Fuchs' endothelial dystrophy

Fuchs' endothelial dystrophy
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Blurred vision, glare, halos around lights
Complications	Corneal edema, vision loss
Onset	Usually after age 50
Duration	Progressive
Types	N/A
Causes	Genetic factors, aging
Risks	Family history, female gender
Diagnosis	Slit-lamp examination, specular microscopy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Corneal transplant, Descemet's stripping endothelial keratoplasty
Medication	N/A
Prognosis	Variable, depends on stage and treatment
Frequency	Common in older adults
Deaths	N/A

Fuchs' endothelial dystrophy is a progressive eye disease that affects the cornea, the clear, dome-shaped surface that covers the front of the eye. It is characterized by the gradual deterioration of the endothelial cells in the cornea, leading to corneal edema and vision impairment.

Pathophysiology

The cornea is composed of five layers, with the innermost layer being the endothelium. The endothelial cells are responsible for maintaining the cornea's clarity by pumping excess fluid out of the corneal stroma. In Fuchs' endothelial dystrophy, these cells gradually die off, leading to fluid accumulation and corneal swelling. This results in corneal thickening and loss of transparency, causing blurred vision and glare.

Etiology

Fuchs' endothelial dystrophy is primarily a genetic disorder, often inherited in an autosomal dominant pattern. The exact genetic mutations involved are not fully understood, but several genes have been implicated, including the TCF4 gene. Environmental factors and aging also contribute to the disease's progression.

Epidemiology

Fuchs' endothelial dystrophy is more common in women than in men and typically manifests after the age of 50. It is one of the leading causes of corneal transplantation in the United States and other developed countries.

Clinical Presentation

Patients with Fuchs' endothelial dystrophy often experience symptoms such as blurred vision, glare, and halos around lights, especially in the morning. As the disease progresses, vision may become consistently blurred, and patients may experience pain due to bullous keratopathy.

Diagnosis

Diagnosis of Fuchs' endothelial dystrophy is primarily clinical, based on a slit-lamp examination that reveals characteristic findings such as guttata and corneal edema. Specular microscopy can be used to assess the density and morphology of endothelial cells, providing further confirmation of the diagnosis.

Management

The management of Fuchs' endothelial dystrophy depends on the severity of the disease. In the early stages, treatment may involve hypertonic saline drops or ointments to reduce corneal swelling. As the disease progresses, surgical intervention may be necessary. The most common surgical treatments are:

• Descemet's stripping endothelial keratoplasty (DSEK): A partial-thickness corneal transplant that replaces the diseased endothelium with healthy donor tissue.
• Descemet membrane endothelial keratoplasty (DMEK): A more advanced technique that involves transplanting only the Descemet membrane and endothelium.

Prognosis

The prognosis for patients with Fuchs' endothelial dystrophy varies. With appropriate surgical intervention, many patients experience significant improvement in vision. However, the disease can recur in the transplanted tissue, necessitating further treatment.

Prevention

There are no known preventive measures for Fuchs' endothelial dystrophy, but early detection and management can help slow the progression of the disease and improve quality of life.

See also

• Corneal dystrophy
• Keratoplasty
• Ophthalmology

Classification
External resources