Congenital and Acquired Epiblepharon

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Article initiated by:

Gangadhara Sundar, MD

All contributors:

Gangadhara Sundar, MD, Michael T Yen, MD

Assigned editor:

Gangadhara Sundar, MD

Review:

Assigned status Update Pending

 by Gangadhara Sundar, MD on April 8, 2024.

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Disease Entity

Congenital and acquired Epiblepharon

Disease

Epiblepharon is commonly a developmental eyelid/eyelid margin condition characterised by overriding of the anterior lamella at the lid margin presenting often as an abnormal horizontal skin fold , resulting in misdirected lashes towards the ocular surface - both the conjunctiva and cornea. Typically seen in children and young adults of East Asian descent, it is much more common in the lower eyelids compared to the upper eyelids (Fig 1)

Figure 1 Epiblepharon upper and lower eyelids with lash corneal touch. (Courtesy of Dr. Gangadhara Sundar, MD.)

Although commonly seen as a congenital or developmental condition , an Acquired Epiblepharon may also be seen in east Asian children and adults following orbital conditions like orbital tumors (primary or secondary), Thyroid Eye Disease (TED), acute orbital hematoma, and other causes of unilateral or bilateral proptosis. Other ethnic groups with some east Asian characteristics, like Hispanics, Latin americans and Inuits etc may also manifest this. Spectrum of clinical consequences include punctate to diffuse keratopathy - conjunctival and/or corneal, corneal infections and ulceration, thinning and scarring. It is often missed and misdiagnosed especially outside of Asia and frequently symptoms mismanaged as well.

Etiology

While in East Asian children it is frequently developmental and an exaggeration of normal anatomy, in other ethnic groups it is a true abnormality. Developmental epiblepharon results from absent or poor attachment of the lower and/or upper eyelid retractors to the overlying skin and subcutaneous tissues. This, along with the circumferential sphincter-like orbicularis oculi fibres, results in overriding of the preseptal over the tethered pretarsal orbicularis causing a skin fold, which in turn results in an inward or posterior rotation of the eyelashes against the medial bulbar conjunctival and infero-medial and central cornea. A low attachment of the orbital septum to the upper (elevator aponeurosis) and lower eyelid retractors also allows the orbital fat to prolapse towards the lid margin causing imbalance between the anterior and posterior lamellae with consequences at the anterior lid margin (Fig 2). Significantly long and thick eyelashes with persistent conjunctival and corneal touch result in varying degrees of symptomatic kerato-conjunctivopathy. Long standing keratopathy may even result in irreversible corneal scarring. Other factors such as orbicularis hypertrophy, relatively poor attachment of the pretarsal orbicularis, and pre-existing tight orbits play a role as well..

Secondary or Acquired Epiblepharon often arises from secondary increases in intraorbital pressure eg. Congenital Glaucoma, Thyroid Eye Disease , orbital tumors (Fig 2), acute orbital hemorrhage, obesity etc, in patients at risk with tight eyelids and orbits typical of East Asians.

Figure 2 Acquired epiblepharon from orbital neuroblastoma. (Courtesy of Dr. Gangadhara Sundar, MD.)

Risk Factors

The well known and most common risk factor are children and young adults of East Asian descent, typically with parents who have either a weak or absent upper eyelid creases ('double eyelids'). Thus children with absent or poor eyelid creases and those with higher Body Mass Index (BMI) are at greater risk . While patients with soft finer lashes may be minimally symptomatic, those with thick stubby lashes are more symptomatic from resultant keratopathy. The tighter eyelids in East Asian orbits is also a risk factor.

Types of epiblepharon

Primary, congenital or developmental epiblepharon: This is the most common type typically seen in children and young adults of East Asian descent. Occasionally patients may present at a much later age having had symptoms for years but misdiagnosed as other conditions. In other ethnic groups, this is a transient developmental abnormality which usually resolves spontaneously.

Secondary or acquired epiblepharon often arises from secondary increases in intraorbital pressure eg. Thyroid Eye Disease(TED), orbital tumors (Fig 2), acute orbital hemorrhage, obesity etc, in patients at risk with tight orbits and eyelids typical of East Asians, but may be seen at any age and some other ethnicities as well. It may be transient if and when the underlying orbital condition resolves eg. haemorrhage, acute oedema, etc or long lasting.

Severity and Grading

Khwarg et al have proposed a practical classification based on the degree and extent of eyelid skin fold, lash-corneal touch and keratopathy.

Primary prevention

Developmental epiblepharon - none. Acquired epiblepharon- optimal management of conditions with tight orbits in East Asians- thyroid eye disease (medical or surgical decompression), orbital haemorrhage (medical or surgical evacuation), Orbital tumors (orbitotomy with tumor removal).

Diagnosis

The diagnosis of epiblepharon is primary clinical, based on history, clinical suspicion and dynamic slit lamp exam of the eye with and without corneal staining. It should however be differentiated from entropion, trichiasis and/or distichiasis. Lower epiblepharon may be manifest in primary gaze, but more typically in down gaze and in adduction. Likewise upper epiblepharon is more obvious in upgaze. A milder form of upper epiblepharon is lash ptosis with which may predispose to an epiblepharon on forced blink or eye closure. (Fig 4a, 4b)

History

The classic history and presentation is a young child of East Asian descent, who presents with rubbing, frequent blinking, tearing and/or discharge from one or both eyes, where other conditions like nasolacrimal duct obstruction and allergic conjunctivitis have been ruled out. Most children may have received a course of topical antibiotics or antiallergics without much response. Occasionally, younger and older adults may have had similar symptoms since childhood or even present with having had repeated epilations or trimmed eyelashes.

Patients with an acquired epiblepharon often present with typical clinical features of an underlying orbital disease i.e., thyroid eye disease, orbital tumor or inflammatory disease, orbital haemorrhage.

Physical examination

A high degree of suspicion is often necessary to make a diagnosis. External examination may reveal a narrow palpebral fissure, weak or absent upper eyelid crease, any of the variants of medial epicanthal fold and occasionally wet sticky eyes. The eyelid margin and the posterior lamella are in their normal position. Slit lamp exam often shows a variable degree of the eyelid skin overriding the lower eyelid margin. The lashes are directed against the medial bulbar conjunctiva and infero-medial cornea, especially in down gaze and adduction. Fluorescein staining of the cornea and conjunctiva is usually positive varying from fine superficial punctate keratopathy to confluent coarse keratopathy. Rarely, in older children and adults with long standing duration, corneal scarring may be present as well

Upper epiblepharon manifests as misdirected medial eyelashes with intermittent corneal-conjunctival touch especially in upward and inward gazes. The typical eyelid skin fold is not seen with upper epiblepharon unless in severe cases.

Symptoms

In early stages and very young children, this is often asymptomatic. Common symptoms include Irritation, foreign body sensation, frequent blinking or rubbing of eyesitching, Tearing with/without discharge

Signs

The most common signs of Epiblepharon include:

• variable lower eyelid skin fold, more prominent medially
• Eyelid margin and posterior lamella are in normal position
• Lash corneal-conjunctival touch, especially in downgaze and adduction in lower epiblepharon and up gaze in upper epiblepharon.
• Fine, intermediate to coarse and confluent keratopathy that stains with fluorescein. (Fig 3a, 3b)
  

  Figure 3A Moderate keratopathy from lower epiblepharon. (Courtesy of Dr. Gangadhara Sundar, MD.)
  

  Figure 3B Severe and confluent keratopathy. (Courtesy of Dr. Gangadhara Sundar, MD.)
  . Spectrum of corneal changes include fine to coarse epitheliopathy with staining, recurrent infections, thinning and scarring.

Associated orbital signs such as proptosis and increased orbital pressure may be present in acquired epiblepharon.

Abnormal eyelashes may be bent or broken. Occasional stumps from clipped lashes may be seen (Fig 4)

Figure 4. Clipped eyelashes from symptomatic epiblepharon. (Courtesy of Dr. Gangadhara Sundar, MD.)

Cornea scarring in severe and long standing keratopathy.

Upper epiblepharon typically manifests with a weak or absent eyelid crease with downward rotation of the eyelashes with lash-corneal touch in primary or up gaze.

Thus these symptoms are mistaken for chronic and allergic conjunctivitis, congenital nasolacrimal duct obstruction in very young children.

Clinical diagnosis

The diagnosis of Epiblepharon is clinical. It may be easily missed in early and mild disease in very young children especially when not looked for. In a symptomatic child, the presence of eyelashes against the cornea and conjunctival in any gaze is diagnostic of this disease. Associated keratopathy determines the threshold for medical and when indicated surgical intervention.

Diagnostic procedures

Epiblepharon is primarily a clinical diagnosis. The main diagnostic procedure is fluorescein staining with documentation by slit lamp photography regarding the nature of severity of keratopathy.

Laboratory test

None

Differential diagnosis

The differential diagnosis for Epiblepharon and their differentiating features are as follows:

• Trichiasis is an acquired condition resulting from a malpositioned eyelash misdirected against the globe.
• Distichiasis is a developmental condition with an aberrant additional row of eyelashes arising from Meibomian gland orifices.
• Entropion of lower eyelid: True inward rotation of posterior lamella and lid margin.
• Nasolacrimal duct obstruction: symptoms since birth, more commonly unilateral, tearing and discharge.
• Allergic conjunctivitis: stringy mucus discharge, conjunctival injection, papillary conjunctival changes.

Natural history

Most children are asymptomatic as the eyelashes are fine and may not induce keratopathy even with lash-corneal touch. As the lashes get thicker and longer and with increasing skin fold, especially in those with higher body mass index. Keratopathy may evolve from asymptomatic fine punctate erosions to confluent keratopathy, and even corneal scarring. A higher astigmatism rate has also been reportedInterestingly, with the development of targeted therapy for TED, regression of Acquired Epiblepharon has been reported following treatment.

Management

Developmental epiblepharon: Children may be initially managed conservatively with lubricants and regular follow up until resolution. Indications for surgical intervention include persistent symptoms, significant keratopathy despite conservative management or inability to frequently apply lubricants especially in young children..

Transient epiblepharon may be symptomatically managed with copious lubrication or temporising procedures until underlying orbital disease is addressed.

Minimally invasive procedures include tissue filler injection into the valley of the skin fold or everting sutures result in transient improvement albeit with higher recurrence rates.

Surgical management is often indicated when symptoms and signs are persistent and severe. Although both transconjunctival and transcutaneous procedures have been described, the latter is most commonly performed and reportedly most successful. The most commonly recommended procedures is the modified Hotz procedure, which involves excision of an ellipse of redundant skin mostly medially, with sutures placed to ensure outward rotation of the eyelashes with wound closure. Acquired epiblepharon: While most acquired epiblepharon may resolve with resolution or treatment of the underlying primary orbital pathology eg. Orbital tumors, hematoma, etc, Apart from lash repositioning procedures, addressing tight lower eyelids may be considered. In more severe cases, orbital decompression may be indicated as it addresses the primary underlying condition.

Outcomes and complications

Success rates are over 95% with high satisfaction rates. Potential complications include undercorrections, especially medially, overcorrections resulting in transient ectropion and visible lid scar, all of which can be prevented with a good technique.

Prognosis

The prognosis is generally excellent in patients who have minimal intermittent lash-corneal touch with fine lashes and those who receive adequate and timely surgical correction. Revision and repeat surgeries are rarely indicated.