Lisch epithelial corneal dystrophy

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Lisch epithelial corneal dystrophy
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Corneal opacity, vision impairment
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history of the condition
Diagnosis	Slit lamp examination, genetic testing
Differential diagnosis	Other corneal dystrophies
Prevention	N/A
Treatment	Corneal transplantation, phototherapeutic keratectomy
Medication	N/A
Prognosis	Variable, may lead to significant vision impairment
Frequency	Rare
Deaths	N/A

A rare form of corneal dystrophy

Lisch epithelial corneal dystrophy (LECD) is a rare, genetic corneal dystrophy characterized by distinctive band-shaped and feathery opacities in the corneal epithelium. It is a non-progressive condition that primarily affects the epithelium of the cornea, leading to visual disturbances.

Presentation

LECD typically presents in early childhood or adolescence, although it can be diagnosed at any age. The hallmark of the condition is the presence of grayish, feathery opacities in the corneal epithelium. These opacities are usually bilateral and asymmetric, meaning they affect both eyes but not necessarily to the same degree. The opacities are often described as "whorled" or "feather-like" in appearance. Patients with LECD may experience symptoms such as:

• Blurred vision
• Glare sensitivity
• Mild discomfort or irritation

The visual impairment is generally mild, and the condition does not typically lead to severe vision loss.

Pathophysiology

The exact genetic cause of Lisch epithelial corneal dystrophy is not fully understood, but it is believed to be inherited in an X-linked dominant pattern. This means that the gene responsible for the condition is located on the X chromosome, and a single copy of the mutated gene is sufficient to cause the disorder in females, while males are more severely affected. The opacities in LECD are due to abnormal deposits of glycogen in the corneal epithelial cells. These deposits disrupt the normal transparency of the cornea, leading to the characteristic visual symptoms.

Diagnosis

Diagnosis of LECD is primarily clinical, based on the characteristic appearance of the corneal opacities observed during a slit-lamp examination. Additional diagnostic tools may include:

• Corneal topography to assess the shape and curvature of the cornea
• Confocal microscopy to visualize the corneal layers at a cellular level

Genetic testing may be used to confirm the diagnosis, especially in cases with a family history of the condition.

Management

There is currently no cure for Lisch epithelial corneal dystrophy, and management focuses on alleviating symptoms and monitoring the condition. Treatment options may include:

• Lubricating eye drops to relieve discomfort
• Spectacle correction for refractive errors
• Contact lenses to improve visual acuity

In rare cases where the opacities significantly impair vision, surgical intervention such as phototherapeutic keratectomy (PTK) may be considered.

Prognosis

The prognosis for individuals with LECD is generally good, as the condition is non-progressive and does not typically lead to severe vision loss. Regular follow-up with an ophthalmologist is recommended to monitor the condition and manage any symptoms.

See also

• Corneal dystrophy
• X-linked dominant inheritance
• Corneal epithelium