Epiblepharon

A congenital eyelid condition

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Epiblepharon

Diagram showing autosomal dominant inheritance pattern.

Epiblepharon is a congenital eyelid condition characterized by a horizontal fold of skin near the margin of the eyelid. This fold causes the eyelashes to be directed vertically or inwards, potentially leading to irritation of the cornea and conjunctiva.

Pathophysiology

Epiblepharon occurs due to an excess of skin and muscle in the eyelid, which results in the misdirection of the eyelashes. This condition is most commonly seen in the lower eyelids and is prevalent among certain ethnic groups, particularly in East Asian populations. The condition is often bilateral, affecting both eyes.

Genetics

Epiblepharon can be inherited in an autosomal dominant pattern, as depicted in the diagram. This means that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the exact genetic mechanisms and loci involved in epiblepharon are not fully understood.

Clinical Presentation

Patients with epiblepharon may present with symptoms such as:

• Tearing
• Eye irritation
• Redness of the eyes
• Sensation of a foreign body in the eye

In some cases, the condition may be asymptomatic and discovered incidentally during an eye examination.

Diagnosis

Diagnosis of epiblepharon is primarily clinical, based on the characteristic appearance of the eyelid and eyelashes. An ophthalmologist may perform a slit-lamp examination to assess the extent of corneal irritation or damage.

Management

Treatment of epiblepharon depends on the severity of symptoms. Mild cases may not require intervention and can be monitored over time. In symptomatic cases, management options include:

• Lubricating eye drops to alleviate irritation
• Surgical correction to reposition the eyelashes and remove the excess skin fold

Surgical intervention is typically considered when there is significant corneal irritation or risk of damage.

Prognosis

The prognosis for individuals with epiblepharon is generally good, especially with appropriate management. Surgical correction is often successful in resolving symptoms and preventing further complications.

Related pages

• Eyelid
• Entropion
• Trichiasis