PEDIATRIC SUPPLEMENT

Congenital and Developmental

Eyelid Abnormalities
William R. Katowitz, M.D.
Summary: Congenital and developmental eyelid abnormalities are among the
James A. Katowitz, M.D. most challenging problems encountered by the reconstructive surgeon. Eyelid
Philadelphia, Pa. abnormalities in children may present at birth as a result of abnormal embry-
ogenesis (congenital) or they may occur at later stages as the child matures
(developmental). These eyelid abnormalities include entropion, ectropion, pto-
sis, lid retraction, epicanthal folds, blepharophimosis, colobomas, cryptoph-
thalmos, and canthal dystopias. Additional considerations include social factors
regarding the child’s self-awareness of their deformities, and specific anesthetic
concerns related to their pediatric problems, which are often multisystem in
nature. Current methods for evaluation and medical and surgical management
are reviewed for each entity. (Plast. Reconstr. Surg. 124 (Suppl.): 93e, 2009.)

E
yelid abnormalities in children may be ap- tation. Failure of this process leads to cryptoph-
parent at birth and associated with abnormal thalmos where the skin covers the globe. The eye-
embryogenesis (congenital) or they may be- lids normally fuse at 8 weeks, and at week 25 of
come manifest at a later stage of growth as the gestation they separate. Failure of complete eyelid
child matures beyond infancy (developmental). separation results in ankyloblepharon. Coloboma-
Some abnormal eyelid findings may not be diag- tous eyelid defects result from failure of the em-
nosed until the child becomes symptomatic, most bryonic facial processes to fuse or from dehiscence
commonly because of corneal irritation. The term of the fused processes because of inadequate migra-
“developmental” thus indicates the dynamic na- tion of mesenchyme into the ectodermal folds.1 Am-
ture of eyelid abnormalities that can be encoun- niotic bands can also cause these defects.
tered not only at birth but that can also evolve after The eyelids can be conceptually separated into
the neonatal period into more significant defor- two layers. The anterior lamella contains the ex-
mities in the growing child. Our focus in this re- ternal surface of skin and underlying orbicularis
view is on the surgical management of congenital oculi muscle. The posterior lamella consists of the
and developmental eyelid abnormalities in chil- tarsus and conjunctiva. The orbicularis muscle is
dren to offer a palate of surgical interventions based further divided into pretarsal, preseptal, and or-
on our experience in dealing with these challenges bital components. The pretarsal portion of the
at The Children’s Hospital of Philadelphia. orbicularis eventually forms extensions onto the pos-
terior lamella, although in newborns this tissue
ANATOMY AND EMBRYOLOGY plane can be looser and prone to sliding. The distal
A brief overview of the embryonic formation of portion of the pretarsal orbicularis forms the gray
the eyelids will elucidate the pathogenesis of some line in the lid margin, which is also called the
of the developmental anomalies covered in this muscle of Riolan. In the upper lid, the tarsus is 10
review. The lids begin to differentiate at week 6 of mm in height, and in the lower lid, the tarsus is
embryogenesis when the ectoderm migrates over approximately 4 mm. The meibomian glands are
the lens vesicle. The eyelid folds of mesenchyme seated deep in the tarsus, and their ductules rise
and ectoderm develop from the sixth week of ges- to exit as tiny orifices at the lid margin just
posterior to the lash follicles. Additional acces-
From the Oculoplastic and Orbital Surgery Service, Edwin sory tear glands exist in the posterior lamella
and Fannie Gray Hall Center for Human Appearance, Uni-
versity of Pennsylvania, and the Division of Pediatric Oph-
thalmology, The Children’s Hospital of Philadelphia.
Received for publication December 6, 2006; accepted Sep- Disclosure: Neither of the authors has a financial
tember 14, 2007. interest in any of the materials mentioned in this
Copyright ©2009 by the American Society of Plastic Surgeons article.
DOI: 10.1097/PRS.0b013e3181aa2a9b

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 Plastic and Reconstructive Surgery • July Supplement 2009

and contribute to production of the aqueous

portion of the tear film.
An understanding of the anatomy of the me-
dial canthal tendon is critical for planning surgical
correction of deformities in this region. The me-
dial canthal tendon splits, sending fibrous at-
tachments of the orbicularis anterior and poste-
rior to the fundus of the lacrimal sac. This creates
the push-and-pull effect of the lacrimal pump dur-
ing blinking.1

DEVELOPMENTAL ANOMALIES OF THE

EYELID MARGIN
Entropion
An inward rotation of the eyelid margin di-
rects the lid lashes onto the cornea and is called
an entropion. This lid abnormality, when not fol-
lowed closely, can cause chronic irritation, corneal Fig. 1. Repair of congenital entropion of the lower eyelid. An
scarring, and subsequent vision loss. The mecha- ellipse of skin and orbicularis is excised on the lid adjacent to
nism of congenital entropion had been attributed the entropion. Pictured is a lateral view of suture placement to
to orbicularis hypertrophy and spasm. However, advance the lower lid retractors. (Reprinted with permission
Tse et al. did not observe evidence of orbicularis from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
hypertrophy and suggest that in lower lid entro- Springer; 2002.)
pion in children there is rather a disinsertion of
the lower lid retractors.2 This condition can also
be associated with microphthalmos, anophthal- ating a gutter. The tarsal defect is then closed with
mos, and epiblepharon.3 an absorbable suture that can be brought through
The physician’s evaluation of a newborn or the overlying orbicularis and skin. This lash-posi-
any child with entropion must distinguish this con- tioning suture that anchors the lash line to the tarsus
dition from epiblepharon, as this may help deter- effectively tightens the anterior lamella of the eyelid,
mine the severity of the condition and the need for thus everting the eyelid margin (Fig. 2).1
intervention. The eyelashes in epiblepharon are
typically vertically oriented (also described as
ptotic when in the upper lid), as opposed to the Ectropion
inward directing of the lashes in entropion from An ectropion exists when the eyelid margin
an actual rotation of the lid margin. Epiblepharon is everted. This can cause chronic ocular irrita-
can improve with age as a child grows, and small tion because of the lack of lid apposition to the
adhesions may form between the orbicularis and globe, with subsequent tear film insufficiency,
posterior lamella. Congenital entropion almost chronic dry eye, and corneal irritation. Congen-
never resolves spontaneously and tends to worsen ital ectropion of the upper lid should be distin-
with age.4 guished from congenital eversion resulting
Treatment of congenital entropion may be from inflammatory changes in the eyelid. Chla-
delayed if the corneal epithelium is intact and mydia trachomatis has been implicated in this
managed with vigilant corneal lubrication, but fre- setting, and appropriate conjunctival smears
quent eye examinations are necessary. The cura- and stains should be performed to rule out this
tive intervention is a lid-everting treatment. condition. When treated with appropriate anti-
A lower eyelid entropion may be repaired by biotics, the eversion will reverse, unlike the ec-
removing an ellipse of skin and orbicularis and tropion, which requires surgical correction. Eyelid
suturing the lower lid retractors to the tarsus (Fig. ectropion has been associated with the blepharo-
1). Upper lid entropion repair can be accom- phimosis syndrome, Down syndrome, and ichthyosis
plished through a skin and orbicularis incision to and less commonly with microphthalmia, eury-
the tarsus and rotation of the lid margin. In more blepharon, and buphthalmos.3 Chronic lid ectro-
severe cases, this can be aided by removal of a pion can lead to keratinization of the palpebral con-
split-thickness horizontal wedge of the tarsus, cre- junctiva requiring conjunctivoplasty.

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Fig. 2. Repair of congenital upper eyelid entropion. (Left) Skin is incised to expose the underlying
tarsus. A base anterior triangle of tarsus is removed across the extent of the entropion. The tarsus
is sutured together to evert the lid margin. (Right) Sagittal view of the lash-positioning suture that
anchors the lash line to the tarsus to evert the lid margin. (Reprinted with permission from Ka-
towitz JA, ed. Pediatric Oculoplastic Surgery. New York: Springer; 2002.)

Management is directed toward the severity of

ocular involvement. If horizontal laxity is present,
the eyelids may be managed like floppy eyelid
syndrome, where a lid-shortening procedure with
a lateral canthoplasty can be used to invert the
eyelid margin. A wedge of the internal lamella can
be removed by excising a margin-based triangle of
tarsus and conjunctiva from the lateral lid. The
eyelid margin can be closed with a 5-0 Vicryl suture
(Ethicon, Inc., Somerville, N.J.), creating a sharp
canthal angle, and the remaining tarsal defect is
closed with one or two 5-0 Vicryl sutures in a hor-
izontal mattress fashion. Care must be taken to
ensure there are no knots or sutures exposed
through the tarsal defect that can rub on the cor-
nea. Alternatively, a lateral lid-shortening proce-
dure can be performed with a lateral canthoplasty
(Fig. 3). The greatest challenge in ectropion repair
presents when there is true shortening of the ante-
rior lamella, as in ichthyosis. In these instances, a skin
graft using preauricular or postauricular skin, for
example, may be required, but this often does not
result in an optimal cosmetic outcome.1
Fig. 3. Artist’s rendition of a lateral canthopexy. After the lower
DEVELOPMENTAL ANOMALIES OF THE arm of the lateral canthal tendon is released from its periosteal
MEDIAL CANTHUS attachment (not pictured), a tarsal strip is created by trimming
Epicanthal Folds excess lid, and the cut margin of the lower eyelid is secured with
Epicanthal folds are skin contours of redun- a 4-0 Vicryl suture that passes through the tarsal strip. (Reprinted
dant tissue in the medial canthus. They are normal with permission from Katowitz JA, ed. Pediatric Oculoplastic Sur-
findings in Asians and are also found in patients gery. New York: Springer; 2002.)

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 Plastic and Reconstructive Surgery • July Supplement 2009

with Down syndrome and blepharophimosis. They The goal, rather, should be to create a scar that
are classified into four subtypes on the basis of the runs through the canthus, thus hiding the repair
origin and termination of the fold tissue (Fig. 4). in a natural contour and shadow.5 To accomplish
Epicanthus tarsalis is normally observed in Asians this, two techniques are very effective: the Y-V
and describes a fold originating in the area of the plasty and the Mustardé “jumping man” or “four-
upper lid tarsal plate and fanning into the medial flap” technique. The first is useful for smaller
canthus. Epicanthus inversus is always considered folds. The arms of the Y are incised along the fold
an abnormality and is part of the blepharophimo- itself, with the horizontal arm creating a medial
sis eyelid syndrome. The fold originates in the canthotomy (Fig. 5). Care is taken to undermine
inferior tarsal region and extends upward to the the orbicularis at the fold and excise any fibrous
medial canthus. Epicanthus palpebralis is more bands that contribute to the structure of the fold.
anterior and extends from the upper tarsus to the The apex of the lateral flap is extended medially
skin overlying the lower medial orbital rim; in and anchored with a 4-0 Vicryl horizontal mattress
epicanthus supraciliaris, the fold runs from just suture. The skin is closed with a fine suture. Ide-
below the eyebrow down to the skin above the ally, this would be a 6-0 Prolene suture (Ethicon)
lacrimal sac.1 that would be removed in the office; however,
The goal of epicanthal fold repair is to elim- given the age of the patient, we have found good
inate the fold adhesions and produce a concave success with 8-0 Vicryl sutures supported with 6-0
contour to the medial canthal region. The con- Vicryl sutures at the points of the flap. The result-
cept behind surgical repair is replacing a vertical ant scar is a horizontal V that lies within the medial
contour with flaps in the horizontal meridian. Pre- canthus.
viously, the techniques of Spaeth (double Mustardé’s jumping man flap is especially
Z-plasty), Blair, and Roveda were popular; how- ideal when there is a coexisting telecanthus but
ever, the resultant scar has often resulted in a can be used even with simple epicanthal fold re-
secondary epicanthal fold because of contracture. pair. To create the four rotating flaps, the skin is

Fig. 4. Artist’s rendition of epicanthal folds. (Above, left) Supraciliaris, (above, right)
tarsalis, (below, left) palpebralis, and (below, right) inversus. (Reprinted with permission
from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York: Springer; 2002.)

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Fig. 5. Artist’s rendition of a Y-V plasty to repair an epicanthal

Fig. 6. Artist’s rendition of the Mustardé jumping man tech-
fold. (Above) This skin incision is marked with the arms of the Y
nique to repair epicanthal folds with or without telecanthus.
placed across the epicanthal folds. (Below) After excising under-
(Above) The skin is marked with the jumping man figure. (Below)
lying fibrous tissue, the canthal tendon is secured under the flap
The flaps are anchored and sewn into place. (Reprinted with per-
with a 4-0 Vicryl suture on a P-2 needle (Ethicon), and this flap is
mission from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New
secured to the periosteum and pulled medially. The skin incision
York: Springer; 2002.)
is closed, resulting in a V scar that is hidden in the contour of the
medial canthus. (Reprinted with permission from Katowitz JA, ed.
Pediatric Oculoplastic Surgery. New York: Springer; 2002.)
tinguished clinically from hypertelorism. In the
latter, there is an increase in the orbital bony
initially marked with a horizontal Y (as with the Y-V distance between the two orbits. In telecanthus, the
plasty), but with a superimposed sigma symbol, or greater width refers only to the soft tissue between
rather, a backward sigma when marking the right the medial canthi. The intercanthal distance in a
eye (Fig. 6). In Mustardé’s original description, normal individual is approximately one-half the dis-
the arms superimposed onto the Y marking are at tance between the two pupils. If contemplating tran-
an angle of 45 degrees, with the bisecting Y cre- snasal wiring, computed tomographic scanning of
ating a 60-degree angle.5 We have closed this the brain and orbits is advisable to confirm the
wound similar to the Y-V with an anchoring deep diagnosis and to make sure the cribriform plate is
Vicryl suture and 8-0 Vicryl sutures to close the not in an inferior position.
skin. In addition, 6-0 Vicryl horizontal sutures are Telecanthus can be associated with the Waar-
used to reappose the tips of the flaps. The success denburg syndrome6 and is always part of the con-
of both the Y-V and Mustardé techniques is de- genital eyelid syndrome (blepharophimosis). Sur-
termined by the patient’s tissue healing. We often gical correction must be directed at moving the
add silicone gels to the postoperative wound reg- medial canthi closer toward the midline.7 To ac-
imen after 2 weeks and have had a very low inci- complish this, a Y-V plasty or Mustardé rotating
dence of hypertrophic scars. flaps can be used to repair the epicanthal folds in
conjunction with repair of the associated telecan-
Telecanthus thus present in the blepharophimosis syndrome.
Telecanthus, which is an increase in the dis- The procedure that will maximally shorten in-
tance between the medial canthi, should be dis- tercanthal distance in telecanthus is transnasal wir-

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 Plastic and Reconstructive Surgery • July Supplement 2009

ing. Once again, it is critical to obtain a computed mosis syndrome), transnasal wiring alone will ex-
tomographic scan of the brain and orbits to make acerbate the ptosis. In addition, the surgeon may
sure the cribriform plate is in a normal position. want to consider intubating the nasolacrimal sys-
This procedure is extracranial and the wire passes tem with either a bicanalicular or monocanalicu-
within the ethmoid sinuses. After an appropriate lar stent to protect the tear outflow system. This
skin incision is made at the canthal angle, the should be strongly considered when repairing uni-
medial canthal tendon periosteum and lacrimal lateral telecanthus, which may be seen in clefting
sac are elevated (Fig. 7). An awl is passed through syndromes or trauma, or when hypertelorism ex-
the lacrimal sac fossa posterior to the lacrimal ists and there is a plan for extensive bone removal.
crest, through the ethmoid sinuses, and out the If there is associated tear duct obstruction, muco-
contralateral lacrimal fossa. Passage of the awl is sal flaps to complete a dacryocystorhinostomy can
aided by creating small ostomies in the lacrimal be performed. For unilateral telecanthus, trans-
bone. A 30-gauge wire is passed through the con- nasal wiring can also be performed, but in this
tralateral medial canthal tendon and then instance, use of an anchor can be a useful alter-
through the eye of the awl. This wire is twisted native.
once and pulled back to the ipsilateral side where
the awl was inserted. The transnasal wire is then
passed through other medial canthal tendon and Blepharophimosis Eyelid Syndrome
the wire is twisted, thus drawing the two medial Blepharophimosis describes both vertical and
canthal tendons together. Although other forms horizontal shortening of the palpebral fissures.
of fixation can be used such as screw plates or When this occurs with telecanthus, epicanthus in-
anchors, we have found the wire technique most versus, and congenital ptosis, it is called the con-
useful. genital eyelid or blepharophimosis eyelid syn-
The surgeon must be aware that in a patient drome. Two types have been identified. Type 1 has
with simultaneous ptosis (as in the blepharophi- the classic triad of ptosis, epicanthus inversus, and

Fig. 7. Artist’s depiction of transnasal wiring. (Above) The awl is in position to

guide the medial canthal suture across the deep nasal pass. (Below) The con-
tralateral side is imbricated and the tightening of the suture will pull both ten-
dons toward the midline. (Reprinted with permission from Katowitz JA, ed. Pe-
diatric Oculoplastic Surgery. New York: Springer; 2002.)

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Volume 124, Number 1S • Eyelid Abnormalities

telecanthus. In addition, female patients suffer of these signs, 1 to 2 hours of patching the dominant
from premature ovarian failure. It is important for eye (after 6 weeks of age) provides some insurance
female patients with blepharophimosis to have an against amblyopia. Teller acuity card measure-
appropriate evaluation of their ovaries with ultra- ments are also useful for monitoring visual devel-
sonography and endocrine testing. These female opment. If the signs point toward amblyopia de-
patients should also be monitored later in life for spite these measures, surgical correction in such
menstrual irregularity. Type 2 blepharophimosis instances should be performed early during the
eyelid syndrome is not associated with premature first 3 to 6 months of life or even sooner for ex-
ovarian failure. tremely severe degrees of ptosis that are some-
The blepharophimosis eyelid syndrome has times seen with blepharophimosis eyelid syn-
been identified as autosomal dominant, and the drome. Milder cases can be deferred to a later
FOXL2 gene on chromosome 3q23, which is a time, but our preference is to begin a staged repair
transcription factor, has been linked to the first for the ptosis between the ages of 9 to 12
syndrome.8 Parents of a child with blepharophi- months using synthetic material. This will permit
mosis eyelid syndrome should be referred to a some stretch of the lids over time. Repair of the
geneticist for consultation. It should be noted epicanthal folds and telecanthus can then be per-
there are other syndromes where blepharophimo-
formed at a late stage, although milder forms may
sis is observed. These syndromes include aniridia-
be repaired simultaneously with the initial ptosis
Wilms tumor association, deletion 18p, FGFR3-as-
sociated coronal synostosis, Noonan syndrome, repair. Although an older age of 6 to 7 years has
Saethre-Chotzen, and cerebro-oculofacioskeletal often been recommended, our preference is to do
syndromes.9 this at approximately age 4 to 5, when a more
Timing of surgical correction is dependent on definitive frontalis suspension with autogenous
the patient’s visual acuity and the severity of chin fascia lata can also be accomplished.1
position (compensatory neck extension to see un- Because most of these patients have poor le-
der ptotic eyelids). Patients with symmetric bilat- vator muscle function, they will need to have a
eral upper lid ptosis are usually at less risk for frontalis suspension. We prefer to use solid sili-
amblyopia than children with unilateral or asym- cone rod material [BD Visitec (Becton Dickinson,
metric ptosis, where a strong preference for fixa- Franklin Lakes, N.J.) or FCI Ophthalmics (Marsh-
tion and suppression of vision in the more ptotic field Hills, Mass.) frontalis suspension set] for our
eye becomes an issue. In addition to occlusion slings in children younger than 4 years. We will use
amblyopia, differences in refraction can also be autologous fascia lata for the older child whose leg
amblyogenic. Use of a chin-up posture and efforts to is of adequate length for harvesting this tissue. We
raise the eyebrows are positive signs that the child thus recommend a system for staging these surgi-
wishes to fuse (i.e., to use both eyes). In the absence cal repairs (Fig. 8).

Fig. 8. Congenital eyelid syndrome (blepharophimosis syndrome): (left) preoperative view and (right) 9 years after
frontalis suspension, transnasal wiring, and Y-V plasty epicanthal fold repair.

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DEVELOPMENTAL ANOMALIES OF THE DEVELOPMENTAL ANOMALIES OF

LATERAL CANTHUS EYELID POSITION
Euryblepharon Ptosis
Euryblepharon is derived from the Latin root Ptosis represents the most common eyelid mal-
eury (wide) and the Greek word blepharon (per- position in children. It can result from myogenic,
taining to the eyelid) and describes enlarged pal- aponeurotic, neurogenic, mechanical, and even
pebral fissures.3 Typically, eye findings include a traumatic causes. Ptosis is an extremely complex
symmetrical, horizontal enlargement of the eye- subject that requires an extensive review of its own,
lid. There is often tight lower eyelid skin with well beyond the scope of this article. However,
ectropion laterally, poor lid apposition to the there are many excellent articles, chapters, and
globe, and chronic eye irritation. The lateral can- even complete textbooks dedicated to this subject
thal tendon can insert anteriorly and inferiorly, to which the reader is directed for more detailed
allowing for an appreciable visible space laterally information.12
between the eye and eyelid (Fig. 9). In addition,
euryblepharon has been associated with ptosis, Eyelid Retraction
telecanthus, a laterally displaced punctum, and a Eyelid retraction occurs when the upper or
double row of meibomian glands.10 This condition lower lids lie distal to the corneal limbus. In
must be differentiated from other causes of ec- healthy children, the upper eyelid is 4 to 5 mm
tropion or lateral canthal dystopia, such as clefting from the center of the cornea, with a vertical fis-
syndromes. sure height of 9 to 10 mm. Some children with
Treatment should be directed toward the eye- shallow orbits have greater inferior scleral show.
lid findings. If there is simple lid laxity, a lid- This can be a racial variant and not true lid re-
shortening procedure may be adequate. Lateral traction. Congenital retraction is rare and can be
tarsorrhaphies can help decrease the ectropion associated with thyroid disease, hydrocephalus
and corneal exposure. If there is adequate lower (the setting sun sign), dorsal midbrain syndrome
lid laxity, lateral canthoplasty and canthopexy pro- (Collier sign), or shallow orbits, or can occur in
cedures may suffice by redirecting the lateral can- conjunction with contralateral ptosis. The last con-
thus superiorly and posteriorly to aid in lid appo- dition is termed “pseudoretraction” because the
sition and closure. When there is significant lower maximal stimulation to lift the contralateral ptotic
lid tension, however, this procedure is much more lid raises the normal lid too high. Lagophthalmos
likely to fail, and one should consider a midface may exist where the lids do not meet with lid
lift. Yip et al. describe the midface lift in conjunc- closure and the lid may not drop when the patient
tion with lateral canthopexy to treat patients with looks downward (lid lag). A thorough work-up is
euryblepharon and a shortened anterior lamella. warranted in a child with lid retraction to deter-
They advocate a transconjunctival incision with mine the cause, and only after its chronicity is
lateral canthotomy to achieve a subperiosteal ap- established (usually with associated signs of cor-
proach to the midface lift.11 neal irritation) should one consider intervention.
This may be desirable in the setting of lid height
asymmetry or undesirable scleral show.
Surgical approaches to upper lid retraction
include a müllerectomy, spacer grafts, levator re-
cession, blepharotomy, and tarsorrhaphy. The de-
cision of which approach to use is partly stylistic
but also dependent on the severity of the lid re-
traction. An internal approach is used for a mül-
lerectomy. This avoids an unwanted lid crease scar
and allows for relief of mild lid retraction (ap-
proximately 2 mm). To accomplish this, the upper
lid margin is everted with a marginal 4-0 silk suture
over a metal plate or Desmarres retractor. A pal-
pebral conjunctival incision is made and the con-
junctiva is reflected to reveal the Müller muscle.
This is lysed from its attachment onto the tarsus
Fig. 9. Euryblepharon. and the conjunctiva is closed.1

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A levator recession will allow for greater repair tum. These lid adhesions are easily opened surgi-
of lid retraction (Fig. 10).1 Recently, Elner et al. cally. Concern has been raised for the medial in-
have advocated a through-and-through blepha- ternal ankyloblepharon because of its proximity to
rotomy for maximal lid retraction repair.13 To ac- the punctum and thus lacrimal intubation with a
complish this, a lid crease incision is made stent such as the Mini Monoka (FCI Ophthalmics)
through skin and orbicularis and a full-thickness can protect the upper nasolacrimal system.14
incision is completed through the levator–Müller
muscle– conjunctival complex at a higher level.
Coloboma
The advantage to this procedure is that it is a
graded approach that can be used to address a lid The word coloboma translated from Greek
with lateral or medial retraction. If necessary, the means incomplete or curtailed. A coloboma in the
levator horns can also be lysed to accomplish max- eyelid has the appearance of a lid that did not form
imal lid drop.13 completely. The formation of eyelid colobomas
has been attributed to a number of causes. Usually,
the cause is a failure of migration of the ectoderm
DEVELOPMENTAL ANOMALIES OF THE or mesoderm during embryogenesis. Colobomas
EYELID FOLD may develop from amniotic bands causing tissue
As discussed earlier, eyelid fold anomalies can compression and intrauterine atrophy or be a con-
range from a failure of normal lid formation to a tinuum of a facial clefting syndrome. The most
variety of eyelid margin defects. common location for a coloboma in the upper lid
is at the middle and inner third of the eyelid
Ankyloblepharon margin. In the lower lid, colobomas are usually
Ankyloblepharon is a congenital fusion be- located in the middle to lateral margin of the
tween the upper and lower eyelids. When the ad- eyelid. True colobomas are full-thickness defects,
hesion is at the lateral canthus, it is called an whereas pseudocolobomas are more of a bowing of
external ankyloblepharon; when it occurs at the the lower lid margin (Fig. 11).15–17 Pseudocolobomas
middle canthus, it is called an internal anky- and true colobomas can also be associated with man-
loblepharon. When there are multiple small dibulofacial dysostosis (Treacher-Collins syndrome)
strands that are in the middle of the margin, the and the hemifacial microsomias. They can also oc-
defect is called ankyloblepharon filiforme adna- cur in patients with developmental anomalies
within the oculoauriculovertebral spectrum. Ex-
amples include Goldenhar syndrome, where the
ocular findings include epibulbar dermoids, der-
matolipomas, and developmental ear anomalies,
mandibular hypoplasia on the affected side, and
vertebral anomalies.
Initial evaluation of patients with eyelid
colobomas must be directed toward protecting the

Fig. 10. Artist’s depiction of blepharotomy for upper eyelid re-

traction. Through a lid crease incision, the levator–Müller mus-
cle– conjunctival complex is incised. The preseptal orbicularis
and skin incision are later closed. (Reprinted with permission
from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York: Fig. 11. A true coloboma of the right upper eyelid: a defect of all
Springer; 2002.) eyelid layers.

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patient’s cornea. Lubrication is often acceptable

initially to delay repair until 6 months of age. This
minimizes anesthesia risks and allows for some
growth of the child’s lids and other facial struc-
tures, thereby facilitating easier surgical repair. If
there are persistent corneal exposure issues, after
applying ocular lubricant over the cornea, a piece
of clear plastic wrap sealed air-tight with tape over
the involved eyelids may be fashioned to act as a
moisture chamber. With large defects, in partic-
ular, one should maintain a very low threshold for
immediate surgical reconstruction, given the sig-
nificant risk of amblyopia and more permanent
forms of vision loss because of corneal exposure.

Upper Eyelid Coloboma Repair

Strategies for repair begin with a careful as-
sessment of the location and size of the eyelid
defect. Small defects (⬍25 percent) can be closed
primarily. The margins of the defect are freshened
and a lid crease incision is made to advance the
anterior lamella (Fig. 12).1
For moderate-sized defects in a young child
(25 to 40 percent), an advancement flap is usually
needed to accomplish this, combined with a can-
thotomy and cantholysis. A semicircular flap is
useful for moderate defects, providing adequate
closure from both functional and aesthetic per-
spectives. It is helpful to use a T design of skin
closure for this type of colobomatous defect. The
normal lid crease is marked and then incised. This
flattens the skin and avoids the usual dog-ear ef-
fect; without this step, an angled scar in the pre-
septal area rather that a more acceptable horizon-
tal scar hidden in the lid crease will result.
For larger upper lid colobomatous defects, ad- Fig. 12. Artist’s depiction of coloboma repair. (Above) After the
ditional posterior lamellar tissue (tarsus and con- margins of the upper eyelid are trimmed to remove epithelium,
junctiva) is often required. Although free tarsal a lid crease incision and a lateral canthal incision allow approxi-
grafts from the contralateral side can be consid- mation of the margins of the coloboma. (Center) Interrupted 5-0
ered, other options such as a rotating flap (Mus- Vicryl sutures reapproximate the tarsus and 6-0 or 7-0 Dexon su-
tardé) or a sliding bridge flap (Cutler-Beard) from tures are used to close the eyelid margin. All sutures are posi-
the opposing lower lid may be used. The advan- tioned before any are tied. (Below) The ends of the margin sutures
tage of the Mustardé rotating flap is the potential are pulled up and tied into one of the vertical skin sutures. (Re-
for transferring lower lid lashes into the upper lid printed with permission from Katowitz JA, ed. Pediatric Oculo-
(Fig. 13 ). With either flap, however, the visual axis plastic Surgery. New York: Springer; 2002.)
must be occluded for several postoperative
weeks to ensure that there is adequate vascular-
ization of the flap before separation. This is a
major concern for producing occlusion ambly- niques require a second-stage procedure to sep-
opia in the young child. Care must also be taken arate the flap and to reconstruct the upper lid
to ensure that there is at least 4 mm of vertical margin and donor site in the lower lid. Some
height from the lid margin to the horizontal lid form of ptosis repair is often required and is
incision with either technique to minimize the performed at a later stage when function and
risk of lid margin necrosis. Both lid-sharing tech- contour can be more adequately assessed.

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Fig. 14. Artist’s depiction of repair of lower eyelid pseudo-

Fig. 13. Artist’s depiction of a Mustardé rotating flap. An upper coloboma. This procedure is useful with malar hypoplasia and
lid coloboma is repaired from a rotating flap from the opposing canthal dystopia. (Above) The transposition flap is rotated into
lid. (Above) The flap is rotated into the upper eyelid defect. (Below) the subciliary incision on the lower eyelid. (Below) The skin is
The flap is sewn in place with a pedicle attached to the lower lid closed with absorbable sutures. (Reprinted with permission
for 3 to 4 weeks to allow for revascularization and then divided from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
from the lower eyelid. (Reprinted with permission from Katowitz Springer; 2002.)
JA, ed. Pediatric Oculoplastic Surgery. New York: Springer; 2002.)

medium defects, a canthotomy and cantholysis

with a semicircle flap can be used. For larger
Lower Lid Coloboma Repair colobomas, a more extensive Mustardé type of
In mild forms of pseudocoloboma, a lateral rotating cheek flap is useful. Mid-forehead flaps
canthopexy may suffice. For more severe forms may occasionally be considered for larger medial
with canthal dystopia and hypoplasia of the malar canthal and medial lid defects but should be
bones and overlying soft tissues, a transposition avoided in favor of bilobed, rhomboid, rotating, or
flap moving skin and muscle from the upper lid to transposition flaps, if possible, to minimize un-
the lower lid can be effective (Fig. 14). For very sightly scars. Larger defects may also require ad-
severe cases, however, microvascular free flaps ditional posterior lamellar support to prevent en-
may be warranted to achieve the optimum in func- tropion and lower lid retraction. Free tarsal grafts
tion and appearance. can be harvested from either upper lid. This works
For true lower lid colobomas with marginal well, without the occlusion produced by lid-sharing
defects, the reconstructive principles are similar to techniques, but does require a viable blood supply
those described for upper lid repairs. For small to from an overlying myocutaneous flap. If adequate

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tarsus is not available, an alternative is nasoseptal testing, such as visual evoked potentials, can also be
cartilage with its mucosal lining. Donor grafts are less helpful for patients with partial or complete crypto-
effective because of more frequent resorption and phthalmos to determine whether ocular surgery and
inflammation with subsequent retraction. In dissect- attempts to construct eyelids should be undertaken.
ing a large rotating cheek flap, it is important to In addition to identifying the hallmarks of Fraser
recognize that the plane of dissection must be sub- syndrome associated with complete cryptophthal-
cutaneous beyond the orbital rim to avoid seventh mos, assessment of the patient’s potential for self-
nerve paresis. awareness should be performed before undertaking
heroic measures for reconstruction.
Cryptophthalmos In patients with partial cryptophthalmos,
Cryptophthalmos is derived from the Latin there is often more hope of improving visual func-
word crypt, which means hidden, and the Greek tion, whereas with complete cryptophthalmos, the
word ophthalmos, which means eye. Appropriately, possibility of achieving any useful vision is extremely
it describes a hidden eye. This rare condition has unlikely. In partial cryptophthalmos, where there
two variants. In complete cryptophthalmos, there can be portions of normal eyelid, the underlying eye
are no lid fissures, as the skin runs from brow to may have less structural abnormalities.
cheek. Unfortunately, where a fissure fails to form,
SOCIAL CONSIDERATIONS
so to do the other layers of the lid. Thus, in com-
plete cryptophthalmos, the lids fail to fully develop In addition to providing surgical correction
a tarsus, meibomian glands, lashes, and orbicularis for developmental eyelid abnormalities, the phy-
muscle (Fig. 15). Furthermore, the eye beneath sician must also be sensitive to the child’s self-
the skin is typically microphthalmic, with a poorly perception and the family’s feelings with regard to
formed cornea and an anterior chamber often their child having an abnormal appearance.
exhibiting iris and lens abnormalities. In partial Sometimes, what we as physicians may perceive as
cryptophthalmos, there is a segment of eyelid abnormal may be considered normal to the family.
fused to the underlying globe that also frequently Quite frequently, one can enter an examination
exhibits a coloboma. The rest of the eyelid may be room with a child who exhibits eyelid deformities,
otherwise normal; however, there are usually de- such as epicanthal folds or blepharophimosis, only
creased conjunctival fornices.3 to observe a parent who has the same condition.
Surgical reconstruction for patients with com- Such family members may have had reconstructive
plete cryptophthalmos presents a series of near- surgery and may seek the same for their child;
impossible challenges for the reconstructive sur- occasionally, others may have gone through life
geon. It is important to recognize the limits of our without surgery and regard his or her deformities
efforts and to offer more realistic expectations re- as not particularly unusual.
garding surgical interventions. Electrophysiologic Although some eyelid anomalies can be
acutely vision threatening and require immediate
intervention, others may relate more to appear-
ance. The importance of helping these children to
appear as normal as possible, however, in addition
to improving function should not be minimized.
Good functional outcomes for our surgical efforts
are important but should not be the only goal.
Psychosocial well-being is also a critical compo-
nent for optimizing each child’s potential for suc-
cess and happiness in school, work, and later life.

ANESTHESIA CONSIDERATIONS
The timing of surgical intervention in eyelid
developmental anomalies is greatly affected by
recommendations made by the anesthesiology ser-
vice. Children younger than 6 months have an
increased risk of complications. This is greatest
before 2 months of age. Our hospital service rec-
ommends waiting until a child is at least 6 months
Fig. 15. Complete cryptophthalmos. of age for elective cases.18 There are, however,

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cases requiring urgent intervention, such as a REFERENCES

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exposure. For this reason, excellent pediatric an- In: Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
esthesia care is critical to proper patient care. Springer; 2002.
Some conditions may improve as the child 2. Tse DT, Anderson RL, Fratkin JD. Aponeurosis disinsertion
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3. Duke-Elder S. Congenital anomalies of the ocular adnexal.
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