PEDIATRIC SUPPLEMENT

Congenital and Developmental

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

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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
scarring, and subsequent vision loss. The mecha-
nism of congenital entropion had been attributed
to orbicularis hypertrophy and spasm. However,
Tse et al. did not observe evidence of orbicularis
hypertrophy and suggest that in lower lid entro-
pion in children there is rather a disinsertion of
the lower lid retractors.2 This condition can also
be associated with microphthalmos, anophthal-
mos, and epiblepharon.3
The physician’s evaluation of a newborn or
any child with entropion must distinguish this con-
dition from epiblepharon, as this may help deter-
mine the severity of the condition and the need for
intervention. The eyelashes in epiblepharon are
typically vertically oriented (also described as
ptotic when in the upper lid), as opposed to the
inward directing of the lashes in entropion from
an actual rotation of the lid margin. Epiblepharon
can improve with age as a child grows, and small
adhesions may form between the orbicularis and
posterior lamella. Congenital entropion almost
never resolves spontaneously and tends to worsen
with age.4
Treatment of congenital entropion may be
delayed if the corneal epithelium is intact and
managed with vigilant corneal lubrication, but fre-
quent eye examinations are necessary. The cura-
tive intervention is a lid-everting treatment.
A lower eyelid entropion may be repaired by
removing an ellipse of skin and orbicularis and
suturing the lower lid retractors to the tarsus (Fig.
1). Upper lid entropion repair can be accom-
plished through a skin and orbicularis incision to
the tarsus and rotation of the lid margin. In more
severe cases, this can be aided by removal of a
split-thickness horizontal wedge of the tarsus, cre-
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Fig. 1. Repair of congenital entropion of the lower eyelid. An
ellipse of skin and orbicularis is excised on the lid adjacent to
the entropion. Pictured is a lateral view of suture placement to
advance the lower lid retractors. (Reprinted with permission
from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
Springer; 2002.)
ating a gutter. The tarsal defect is then closed with
an absorbable suture that can be brought through
the overlying orbicularis and skin. This lash-posi-
tioning suture that anchors the lash line to the tarsus
effectively tightens the anterior lamella of the eyelid,
thus everting the eyelid margin (Fig. 2).1
Ectropion
An ectropion exists when the eyelid margin
is everted. This can cause chronic ocular irrita-
tion because of the lack of lid apposition to the
globe, with subsequent tear film insufficiency,
chronic dry eye, and corneal irritation. Congen-
ital ectropion of the upper lid should be distin-
guished from congenital eversion resulting
from inflammatory changes in the eyelid. Chla-
mydia trachomatis has been implicated in this
setting, and appropriate conjunctival smears
and stains should be performed to rule out this
condition. When treated with appropriate anti-
biotics, the eversion will reverse, unlike the ec-
tropion, which requires surgical correction. Eyelid
ectropion has been associated with the blepharo-
phimosis syndrome, Down syndrome, and ichthyosis
and less commonly with microphthalmia, eury-
blepharon, and buphthalmos.3 Chronic lid ectro-
pion can lead to keratinization of the palpebral con-
junctiva requiring conjunctivoplasty.
Volume 124, Number 1S • Eyelid Abnormalities

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
are classified into four subtypes on the basis of the
origin and termination of the fold tissue (Fig. 4).
Epicanthus tarsalis is normally observed in Asians
and describes a fold originating in the area of the
upper lid tarsal plate and fanning into the medial
canthus. Epicanthus inversus is always considered
an abnormality and is part of the blepharophimo-
sis eyelid syndrome. The fold originates in the
inferior tarsal region and extends upward to the
medial canthus. Epicanthus palpebralis is more
anterior and extends from the upper tarsus to the
skin overlying the lower medial orbital rim; in
epicanthus supraciliaris, the fold runs from just
below the eyebrow down to the skin above the
lacrimal sac.1
The goal of epicanthal fold repair is to elim-
inate the fold adhesions and produce a concave
contour to the medial canthal region. The con-
cept behind surgical repair is replacing a vertical
contour with flaps in the horizontal meridian. Pre-
viously, the techniques of Spaeth (double
Z-plasty), Blair, and Roveda were popular; how-
ever, the resultant scar has often resulted in a
secondary epicanthal fold because of contracture.
The goal, rather, should be to create a scar that
runs through the canthus, thus hiding the repair
in a natural contour and shadow.5 To accomplish
this, two techniques are very effective: the Y-V
plasty and the Mustardé “jumping man” or “four-
flap” technique. The first is useful for smaller
folds. The arms of the Y are incised along the fold
itself, with the horizontal arm creating a medial
canthotomy (Fig. 5). Care is taken to undermine
the orbicularis at the fold and excise any fibrous
bands that contribute to the structure of the fold.
The apex of the lateral flap is extended medially
and anchored with a 4-0 Vicryl horizontal mattress
suture. The skin is closed with a fine suture. Ide-
ally, this would be a 6-0 Prolene suture (Ethicon)
that would be removed in the office; however,
given the age of the patient, we have found good
success with 8-0 Vicryl sutures supported with 6-0
Vicryl sutures at the points of the flap. The result-
ant scar is a horizontal V that lies within the medial
canthus.
Mustardé’s jumping man flap is especially
ideal when there is a coexisting telecanthus but
can be used even with simple epicanthal fold re-
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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Volume 124, Number 1S • Eyelid Abnormalities
Fig. 5. Artist’s rendition of a Y-V plasty to repair an epicanthal
fold. (Above) This skin incision is marked with the arms of the Y
placed across the epicanthal folds. (Below) After excising under-
lying fibrous tissue, the canthal tendon is secured under the flap
with a 4-0 Vicryl suture on a P-2 needle (Ethicon), and this flap is
secured to the periosteum and pulled medially. The skin incision
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.)
initially marked with a horizontal Y (as with the Y-V
plasty), but with a superimposed sigma symbol, or
rather, a backward sigma when marking the right
eye (Fig. 6). In Mustardé’s original description,
the arms superimposed onto the Y marking are at
an angle of 45 degrees, with the bisecting Y cre-
ating a 60-degree angle.5 We have closed this
wound similar to the Y-V with an anchoring deep
Vicryl suture and 8-0 Vicryl sutures to close the
skin. In addition, 6-0 Vicryl horizontal sutures are
used to reappose the tips of the flaps. The success
of both the Y-V and Mustardé techniques is de-
termined by the patient’s tissue healing. We often
add silicone gels to the postoperative wound reg-
imen after 2 weeks and have had a very low inci-
dence of hypertrophic scars.
Telecanthus
Telecanthus, which is an increase in the dis-
tance between the medial canthi, should be dis-
Fig. 6. Artist’s rendition of the Mustardé jumping man tech-
nique to repair epicanthal folds with or without telecanthus.
(Above) The skin is marked with the jumping man figure. (Below)
The flaps are anchored and sewn into place. (Reprinted with per-
mission 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
distance between the two orbits. In telecanthus, the
greater width refers only to the soft tissue between
the medial canthi. The intercanthal distance in a
normal individual is approximately one-half the dis-
tance between the two pupils. If contemplating tran-
snasal wiring, computed tomographic scanning of
the brain and orbits is advisable to confirm the
diagnosis and to make sure the cribriform plate is
not in an inferior position.
Telecanthus can be associated with the Waar-
denburg syndrome6 and is always part of the con-
genital eyelid syndrome (blepharophimosis). Sur-
gical correction must be directed at moving the
medial canthi closer toward the midline.7 To ac-
complish this, a Y-V plasty or Mustardé rotating
flaps can be used to repair the epicanthal folds in
conjunction with repair of the associated telecan-
thus present in the blepharophimosis syndrome.
The procedure that will maximally shorten in-
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
tomographic scan of the brain and orbits to make
sure the cribriform plate is in a normal position.
This procedure is extracranial and the wire passes
within the ethmoid sinuses. After an appropriate
skin incision is made at the canthal angle, the
medial canthal tendon periosteum and lacrimal
sac are elevated (Fig. 7). An awl is passed through
the lacrimal sac fossa posterior to the lacrimal
crest, through the ethmoid sinuses, and out the
contralateral lacrimal fossa. Passage of the awl is
aided by creating small ostomies in the lacrimal
bone. A 30-gauge wire is passed through the con-
tralateral medial canthal tendon and then
through the eye of the awl. This wire is twisted
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
the wire is twisted, thus drawing the two medial
canthal tendons together. Although other forms
of fixation can be used such as screw plates or
anchors, we have found the wire technique most
useful.
The surgeon must be aware that in a patient
with simultaneous ptosis (as in the blepharophi-
mosis syndrome), transnasal wiring alone will ex-
acerbate the ptosis. In addition, the surgeon may
want to consider intubating the nasolacrimal sys-
tem with either a bicanalicular or monocanalicu-
lar stent to protect the tear outflow system. This
should be strongly considered when repairing uni-
lateral telecanthus, which may be seen in clefting
syndromes or trauma, or when hypertelorism ex-
ists and there is a plan for extensive bone removal.
If there is associated tear duct obstruction, muco-
sal flaps to complete a dacryocystorhinostomy can
be performed. For unilateral telecanthus, trans-
nasal wiring can also be performed, but in this
instance, use of an anchor can be a useful alter-
native.
Blepharophimosis Eyelid Syndrome
Blepharophimosis describes both vertical and
horizontal shortening of the palpebral fissures.
When this occurs with telecanthus, epicanthus in-
versus, and congenital ptosis, it is called the con-
genital eyelid or blepharophimosis eyelid syn-
drome. Two types have been identified. Type 1 has
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
from premature ovarian failure. It is important for
female patients with blepharophimosis to have an
appropriate evaluation of their ovaries with ultra-
sonography and endocrine testing. These female
patients should also be monitored later in life for
menstrual irregularity. Type 2 blepharophimosis
eyelid syndrome is not associated with premature
ovarian failure.
The blepharophimosis eyelid syndrome has
been identified as autosomal dominant, and the
FOXL2 gene on chromosome 3q23, which is a
transcription factor, has been linked to the
syndrome.8 Parents of a child with blepharophi-
mosis eyelid syndrome should be referred to a
geneticist for consultation. It should be noted
there are other syndromes where blepharophimo-
sis is observed. These syndromes include aniridia-
Wilms tumor association, deletion 18p, FGFR3-as-
sociated coronal synostosis, Noonan syndrome,
Saethre-Chotzen, and cerebro-oculofacioskeletal
syndromes.9
Timing of surgical correction is dependent on
the patient’s visual acuity and the severity of chin
position (compensatory neck extension to see un-
der ptotic eyelids). Patients with symmetric bilat-
eral upper lid ptosis are usually at less risk for
amblyopia than children with unilateral or asym-
metric ptosis, where a strong preference for fixa-
tion and suppression of vision in the more ptotic
eye becomes an issue. In addition to occlusion
amblyopia, differences in refraction can also be
amblyogenic. Use of a chin-up posture and efforts to
raise the eyebrows are positive signs that the child
wishes to fuse (i.e., to use both eyes). In the absence
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.
of these signs, 1 to 2 hours of patching the dominant
eye (after 6 weeks of age) provides some insurance
against amblyopia. Teller acuity card measure-
ments are also useful for monitoring visual devel-
opment. If the signs point toward amblyopia de-
spite these measures, surgical correction in such
instances should be performed early during the
first 3 to 6 months of life or even sooner for ex-
tremely severe degrees of ptosis that are some-
times seen with blepharophimosis eyelid syn-
drome. Milder cases can be deferred to a later
time, but our preference is to begin a staged repair
first for the ptosis between the ages of 9 to 12
months using synthetic material. This will permit
some stretch of the lids over time. Repair of the
epicanthal folds and telecanthus can then be per-
formed at a late stage, although milder forms may
be repaired simultaneously with the initial ptosis
repair. Although an older age of 6 to 7 years has
often been recommended, our preference is to do
this at approximately age 4 to 5, when a more
definitive frontalis suspension with autogenous
fascia lata can also be accomplished.1
Because most of these patients have poor le-
vator muscle function, they will need to have a
frontalis suspension. We prefer to use solid sili-
cone rod material [BD Visitec (Becton Dickinson,
Franklin Lakes, N.J.) or FCI Ophthalmics (Marsh-
field Hills, Mass.) frontalis suspension set] for our
slings in children younger than 4 years. We will use
autologous fascia lata for the older child whose leg
is of adequate length for harvesting this tissue. We
thus recommend a system for staging these surgi-
cal repairs (Fig. 8).
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 Plastic and Reconstructive Surgery • July Supplement 2009
DEVELOPMENTAL ANOMALIES OF THE
LATERAL CANTHUS
Euryblepharon
Euryblepharon is derived from the Latin root
eury (wide) and the Greek word blepharon (per-
taining to the eyelid) and describes enlarged pal-
pebral fissures.3 Typically, eye findings include a
symmetrical, horizontal enlargement of the eye-
lid. There is often tight lower eyelid skin with
ectropion laterally, poor lid apposition to the
globe, and chronic eye irritation. The lateral can-
thal tendon can insert anteriorly and inferiorly,
allowing for an appreciable visible space laterally
between the eye and eyelid (Fig. 9). In addition,
euryblepharon has been associated with ptosis,
telecanthus, a laterally displaced punctum, and a
double row of meibomian glands.10 This condition
must be differentiated from other causes of ec-
tropion or lateral canthal dystopia, such as clefting
syndromes.
Treatment should be directed toward the eye-
lid findings. If there is simple lid laxity, a lid-
shortening procedure may be adequate. Lateral
tarsorrhaphies can help decrease the ectropion
and corneal exposure. If there is adequate lower
lid laxity, lateral canthoplasty and canthopexy pro-
cedures may suffice by redirecting the lateral can-
thus superiorly and posteriorly to aid in lid appo-
sition and closure. When there is significant lower
lid tension, however, this procedure is much more
likely to fail, and one should consider a midface
lift. Yip et al. describe the midface lift in conjunc-
tion with lateral canthopexy to treat patients with
euryblepharon and a shortened anterior lamella.
They advocate a transconjunctival incision with
lateral canthotomy to achieve a subperiosteal ap-
proach to the midface lift.11
Fig. 9. Euryblepharon.
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DEVELOPMENTAL ANOMALIES OF
EYELID POSITION
Ptosis
Ptosis represents the most common eyelid mal-
position in children. It can result from myogenic,
aponeurotic, neurogenic, mechanical, and even
traumatic causes. Ptosis is an extremely complex
subject that requires an extensive review of its own,
well beyond the scope of this article. However,
there are many excellent articles, chapters, and
even complete textbooks dedicated to this subject
to which the reader is directed for more detailed
information.12
Eyelid Retraction
Eyelid retraction occurs when the upper or
lower lids lie distal to the corneal limbus. In
healthy children, the upper eyelid is 4 to 5 mm
from the center of the cornea, with a vertical fis-
sure height of 9 to 10 mm. Some children with
shallow orbits have greater inferior scleral show.
This can be a racial variant and not true lid re-
traction. Congenital retraction is rare and can be
associated with thyroid disease, hydrocephalus
(the setting sun sign), dorsal midbrain syndrome
(Collier sign), or shallow orbits, or can occur in
conjunction with contralateral ptosis. The last con-
dition is termed “pseudoretraction” because the
maximal stimulation to lift the contralateral ptotic
lid raises the normal lid too high. Lagophthalmos
may exist where the lids do not meet with lid
closure and the lid may not drop when the patient
looks downward (lid lag). A thorough work-up is
warranted in a child with lid retraction to deter-
mine the cause, and only after its chronicity is
established (usually with associated signs of cor-
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
and the conjunctiva is closed.1
Volume 124, Number 1S • Eyelid Abnormalities
A levator recession will allow for greater repair
of lid retraction (Fig. 10).1 Recently, Elner et al.
have advocated a through-and-through blepha-
rotomy for maximal lid retraction repair.13 To ac-
complish this, a lid crease incision is made
through skin and orbicularis and a full-thickness
incision is completed through the levator–Müller
muscle– conjunctival complex at a higher level.
The advantage to this procedure is that it is a
graded approach that can be used to address a lid
with lateral or medial retraction. If necessary, the
levator horns can also be lysed to accomplish max-
imal lid drop.13
DEVELOPMENTAL ANOMALIES OF THE
EYELID FOLD
As discussed earlier, eyelid fold anomalies can
range from a failure of normal lid formation to a
variety of eyelid margin defects.
Ankyloblepharon
Ankyloblepharon is a congenital fusion be-
tween the upper and lower eyelids. When the ad-
hesion is at the lateral canthus, it is called an
external ankyloblepharon; when it occurs at the
middle canthus, it is called an internal anky-
loblepharon. When there are multiple small
strands that are in the middle of the margin, the
defect is called ankyloblepharon filiforme adna-
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:
Springer; 2002.)
tum. These lid adhesions are easily opened surgi-
cally. Concern has been raised for the medial in-
ternal ankyloblepharon because of its proximity to
the punctum and thus lacrimal intubation with a
stent such as the Mini Monoka (FCI Ophthalmics)
can protect the upper nasolacrimal system.14
Coloboma
The word coloboma translated from Greek
means incomplete or curtailed. A coloboma in the
eyelid has the appearance of a lid that did not form
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
or mesoderm during embryogenesis. Colobomas
may develop from amniotic bands causing tissue
compression and intrauterine atrophy or be a con-
tinuum of a facial clefting syndrome. The most
common location for a coloboma in the upper lid
is at the middle and inner third of the eyelid
margin. In the lower lid, colobomas are usually
located in the middle to lateral margin of the
eyelid. True colobomas are full-thickness defects,
whereas pseudocolobomas are more of a bowing of
the lower lid margin (Fig. 11).15–17 Pseudocolobomas
and true colobomas can also be associated with man-
dibulofacial dysostosis (Treacher-Collins syndrome)
and the hemifacial microsomias. They can also oc-
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. 11. A true coloboma of the right upper eyelid: a defect of all
eyelid layers.
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 Plastic and Reconstructive Surgery • July Supplement 2009

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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Volume 124, Number 1S • Eyelid Abnormalities
Fig. 13. Artist’s depiction of a Mustardé rotating flap. An upper
lid coloboma is repaired from a rotating flap from the opposing
lid. (Above) The flap is rotated into the upper eyelid defect. (Below)
The flap is sewn in place with a pedicle attached to the lower lid
for 3 to 4 weeks to allow for revascularization and then divided
from the lower eyelid. (Reprinted with permission from Katowitz
JA, ed. Pediatric Oculoplastic Surgery. New York: Springer; 2002.)
Lower Lid Coloboma Repair
In mild forms of pseudocoloboma, a lateral
canthopexy may suffice. For more severe forms
with canthal dystopia and hypoplasia of the malar
bones and overlying soft tissues, a transposition
flap moving skin and muscle from the upper lid to
the lower lid can be effective (Fig. 14). For very
severe cases, however, microvascular free flaps
may be warranted to achieve the optimum in func-
tion and appearance.
For true lower lid colobomas with marginal
defects, the reconstructive principles are similar to
those described for upper lid repairs. For small to
Fig. 14. Artist’s depiction of repair of lower eyelid pseudo-
coloboma. This procedure is useful with malar hypoplasia and
canthal dystopia. (Above) The transposition flap is rotated into
the subciliary incision on the lower eyelid. (Below) The skin is
closed with absorbable sutures. (Reprinted with permission
from Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
Springer; 2002.)
medium defects, a canthotomy and cantholysis
with a semicircle flap can be used. For larger
colobomas, a more extensive Mustardé type of
rotating cheek flap is useful. Mid-forehead flaps
may occasionally be considered for larger medial
canthal and medial lid defects but should be
avoided in favor of bilobed, rhomboid, rotating, or
transposition flaps, if possible, to minimize un-
sightly scars. Larger defects may also require ad-
ditional posterior lamellar support to prevent en-
tropion and lower lid retraction. Free tarsal grafts
can be harvested from either upper lid. This works
well, without the occlusion produced by lid-sharing
techniques, but does require a viable blood supply
from an overlying myocutaneous flap. If adequate
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 Plastic and Reconstructive Surgery • July Supplement 2009
tarsus is not available, an alternative is nasoseptal
cartilage with its mucosal lining. Donor grafts are less
effective because of more frequent resorption and
inflammation with subsequent retraction. In dissect-
ing a large rotating cheek flap, it is important to
recognize that the plane of dissection must be sub-
cutaneous beyond the orbital rim to avoid seventh
nerve paresis.
Cryptophthalmos
Cryptophthalmos is derived from the Latin
word crypt, which means hidden, and the Greek
word ophthalmos, which means eye. Appropriately,
it describes a hidden eye. This rare condition has
two variants. In complete cryptophthalmos, there
are no lid fissures, as the skin runs from brow to
cheek. Unfortunately, where a fissure fails to form,
so to do the other layers of the lid. Thus, in com-
plete cryptophthalmos, the lids fail to fully develop
a tarsus, meibomian glands, lashes, and orbicularis
muscle (Fig. 15). Furthermore, the eye beneath
the skin is typically microphthalmic, with a poorly
formed cornea and an anterior chamber often
exhibiting iris and lens abnormalities. In partial
cryptophthalmos, there is a segment of eyelid
fused to the underlying globe that also frequently
exhibits a coloboma. The rest of the eyelid may be
otherwise normal; however, there are usually de-
creased conjunctival fornices.3
Surgical reconstruction for patients with com-
plete cryptophthalmos presents a series of near-
impossible challenges for the reconstructive sur-
geon. It is important to recognize the limits of our
efforts and to offer more realistic expectations re-
garding surgical interventions. Electrophysiologic
Fig. 15. Complete cryptophthalmos.
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testing, such as visual evoked potentials, can also be
helpful for patients with partial or complete crypto-
phthalmos to determine whether ocular surgery and
attempts to construct eyelids should be undertaken.
In addition to identifying the hallmarks of Fraser
syndrome associated with complete cryptophthal-
mos, assessment of the patient’s potential for self-
awareness should be performed before undertaking
heroic measures for reconstruction.
In patients with partial cryptophthalmos,
there is often more hope of improving visual func-
tion, whereas with complete cryptophthalmos, the
possibility of achieving any useful vision is extremely
unlikely. In partial cryptophthalmos, where there
can be portions of normal eyelid, the underlying eye
may have less structural abnormalities.
SOCIAL CONSIDERATIONS
In addition to providing surgical correction
for developmental eyelid abnormalities, the phy-
sician must also be sensitive to the child’s self-
perception and the family’s feelings with regard to
their child having an abnormal appearance.
Sometimes, what we as physicians may perceive as
abnormal may be considered normal to the family.
Quite frequently, one can enter an examination
room with a child who exhibits eyelid deformities,
such as epicanthal folds or blepharophimosis, only
to observe a parent who has the same condition.
Such family members may have had reconstructive
surgery and may seek the same for their child;
occasionally, others may have gone through life
without surgery and regard his or her deformities
as not particularly unusual.
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
of age for elective cases.18 There are, however,
Volume 124, Number 1S • Eyelid Abnormalities
cases requiring urgent intervention, such as a
large upper eyelid coloboma resulting in corneal
exposure. For this reason, excellent pediatric an-
esthesia care is critical to proper patient care.
Some conditions may improve as the child
ages and undergoes facial growth. Other condi-
tions, however, may not improve and may result in
significant morbidity if no intervention is under-
taken. Preserving normal visual development is
the most critical issue in managing eyelid abnor-
malities. The globe needs to be adequately pro-
tected by the eyelids and the visual axis must be
free of obstruction.
CONCLUSIONS
Congenital and developmental eyelid abnor-
malities are among the most challenging problems
encountered by the reconstructive surgeon. Unfor-
tunately, environment, growth, and gravity all play
roles in treatment outcomes, and it is not uncom-
mon for children with eyelid abnormalities to need
multiple operations over the course of their child-
hood and later in their adult years. As reconstructive
surgeons, we thus form lifelong relationships with
our patients, and we can only hope that with new
techniques for diagnosis and treatment our efforts
will continue to improve their function and cosmesis
and reduce any stigma associated with their congen-
ital or developmental eyelid abnormalities.
William R. Katowitz, M.D.
Oculoplastic and Orbital Surgery Service
Edwin and Fannie Gray Hall Center for Human
Appearance
University of Pennsylvania
and Division of Pediatric Ophthalmology
The Children’s Hospital of Philadelphia
Richard D. Wood Clinical Building
34th and Civic Center Boulevard
Philadelphia, Pa. 19104
katowitzw@email.chop.edu
REFERENCES
1. Foster JA, Katowitz JA. Developmental eyelid abnormalities.
In: Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
Springer; 2002.
2. Tse DT, Anderson RL, Fratkin JD. Aponeurosis disinsertion
in congenital entropion. Ophthalmology 1983;101:436–440.
3. Duke-Elder S. Congenital anomalies of the ocular adnexal.
In: Duke-Elder S, ed. System of Ophthalmology. London: Henry
Kimpton; 1964.
4. Collin JRO. A Manual of Systematic Eyelid Surgery. Philadelphia:
Elsevier: 2006:29.
5. Mustardé JC. Repair and Reconstruction in the Orbital Region.
New York: Churchill Livingstone; 1991:467.
6. Read AP, Newton VE. Waardenburg syndrome. J Med Genet.
1997;34:656–665.
7. Sutula FC, Fant EL. Repair of medial canthal dystopia. Oph-
thalmic Surg. 1986;17:570–572.
8. Beysen D, Vandesmopele J, Messiaen L, De Paepe A, De
Baere E. The human FLOXL2 mutation database. Hum Mu-
tat. 2004;24:189–193.
9. Jones KL. Recognizable Patterns of Human Malformation. Phil-
adelphia: Elsevier; 2006.
10. McCord CD Jr, Chappell J, Pollard ZF. Congenital eury-
blepharon. Ann Ophthalmol. 1979;11:1217–1224.
11. Yip CC, McCann JD, Goldberg RA. The role of midface lift
and lateral canthal repositioning in the management of eu-
ryblepharon. Arch Ophthalmol. 2004;122:1075–1077.
12. Heher KL, Katowitz JA. In: Katowitz JA, ed. Pediatric Oculo-
plastic Surgery. New York: Springer; 2002.
13. Elner VM, Hassan AS, Freuh BR. Graded full-thickness an-
terior blepharotomy for upper eyelid retraction. Arch Oph-
thalmol. 2004;122:55–60.
14. Burns JA, Cahill KV. Congenital eyelid anomalies. In: Walt-
man SR, Keates RH, Hoyt CS, et al., eds. Surgery of the Eye. Vol.
1. New York: Churchill Livingstone; 1988.
15. Poswillo D. Pathogenesis of craniofacial syndromes exhibit-
ing colobomata. Trans Ophthalmol Soc U K. 1976;96:69–72.
16. Casey TA. Congenital colobomata of the eyelids. Trans Oph-
thalmol Soc U K. 1976;96:65–68.
17. Mann I. Developmental Abnormalities of the Eye. Philadelphia:
Lippincott; 1957:21.
18. Cook-Sather SD, Scheiner MS. Pediatric anesthesia. In:
Katowitz JA, ed. Pediatric Oculoplastic Surgery. New York:
Springer; 2002.
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