CONGENITAL

ABNORMALITIES OF Presentor- Dr. Anushree

Moderator- Dr. Saumika

THE LIDS
 ANATOMY AND
EMBRYOLOGY OF
EYELIDS
EMBRYOLOGY
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
gestation.
Failure of this process leads to cryptophthalmos where the skin covers the globe.
The eyelids normally fuse at 8 weeks, and at week 25 of gestation they separate.
Failure of complete eyelid separation results in ankyloblepharon.
Colobomatous eyelid defects result from failure of the embryonic facial processes
to fuse or from dehiscence of the fused processes because of inadequate migration of
mesenchyme into the ectodermal folds. Amniotic bands can also cause these defects.
ANATOMY
Skin Pretarsal
Anterior
Lamella Orbiularis
Preseptal
Oculi

Orbital
Eyelid
Meibomian
gland
Tarsus
Posterior Accessory
Lamella Conjunctiv tear glands
a
The pretarsal portion of the orbicularis eventually forms extensions onto the
posterior lamella
The distal portion of the pretarsal orbicularis forms the gray line in the lid margin,
which is also called the muscle of Riolan.
Tarsus height is 10 mm in UL, and 4 mm in LL.
An understanding of the anatomy of the medial canthal tendon is critical for
planning surgical correction of deformities in this region.
The medial canthal tendon splits, sending fibrous attachments of the orbicularis
anterior and posterior to the fundus of the lacrimal sac. This creates the push-and-
pull effect of the lacrimal pump during blinking
•Congenital and developmental eyelid abnormalities are among the most challenging
problems encountered by the reconstructive surgeon.

Eyelid
abnormalities

Developmenta
Congenital
l
 DEVELOPMENTAL
ANOMALIES OF THE • Entropion
• Ectropion

EYELID MARGIN
ENTROPION
An inward rotation of the eyelid margin directs the lid lashes onto the cornea and is
called an entropion.
This lid abnormality, when not followed closely, can cause chronic irritation, corneal
scarring, and subsequent vision loss.
The mechanism 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 entropion in children there is rather a disinsertion of the lower lid
retractors.
Can also be A/W microphthalmos, anophthalmos, and epiblepharon.
The eyelashes in epiblepharon are Inward directing of the lashes in
typically vertically oriented (also entropion from an actual rotation of the
described as ptotic when in the upper lid margin.
lid.
 Congenital entropion almost never
Epiblepharon can improve with age as resolves spontaneously and tends to
a child grows, and small adhesions may worsen with age
form between the orbicularis and
posterior lamella.
MANAGEMENT
Treatment of congenital entropion may be delayed if the corneal epithelium is
intact and managed with vigilant corneal lubrication, but frequent eye examinations
are necessary.
The curative 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
Upper lid entropion repair can be accomplished 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, creating a gutter.
ECTROPION
An ectropion exists when the eyelid margin is everted.
This can cause chronic ocular irritation because of the lack of lid apposition to the globe,
with subsequent tear film insufficiency, chronic dry eye, and corneal irritation.
Congenital ectropion of the upper lid should be distinguished from congenital eversion
resulting from inflammatory changes in the eyelid.
Chlamydia 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 antibiotics, the eversion will reverse, unlike the ectropion,
which requires surgical correction.
Eyelid ectropion has been associated with the blepharophimosis syndrome, Down syndrome,
and ichthyosis and less commonly with microphthalmia, euryblepharon, and buphthalmos
Chronic lid ectropion can lead to keratinization of the palpebral conjunctiva requiring
conjunctivoplasty.
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.
Alternatively, a lateral lid-shortening procedure can be performed with a lateral canthoplasty.
The greatest challenge in ectropion repair presents when there is true shortening of the
anterior lamella, asinichthyosis. 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
 DEVELOPMENTAL • Epicanthus

ANOMALIES OF THE • Telecanthus

• Blepharophimosis Eyelid

MEDIAL CANTHUS Syndrome

EPICANTHIC FOLDS
Epicanthal Folds Epicanthal folds are skin contours of redundant tissue in the medial
canthus.
A/W Asians ,Down syndrome and blepharophimosis.
Classified into four subtypes on the basis of the origin and termination of the fold
tissue :
Epicanthus tarsalis: fold most prominent along upper eyelid
Epicanthus inversus: most prominent along lower eyelid
Epicanthus palpebralis: involves both upper and lower eyelids
Epicanthus superciliaris: fold originates from the brow and follows down to the
lacrimal sac
The goal of epicanthal fold repair is to eliminate the fold adhesions and produce a
concave contour to the medial canthal region.
The concept behind surgical repair is replacing a vertical contour with flaps in the
horizontal meridian.
Previously, the techniques of Spaeth (double Z-plasty), Blair, and Roveda were
popular; however, the resultant scar has often resulted in a secondary epicanthal fold
because of contracture.
Now the Y-V plasty and the Mustarde´ “jumping man” or “fourflap” technique are
preferred.
TELECANTHUS
Increase in the distance between the medial canthi, should be distinguished 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
distance between the two pupils.
Surgical correction must be directed at moving the medial canthi closer toward the
midline. To accomplish this, a Y-V plasty or Mustarde´ rotating flaps can be used to
repair the epicanthal folds in conjunction with repair of the associated telecanthus
present in the blepharophimosis syndrome. The procedure that will maximally shorten
intercanthal distance.
BLEPHAROPHIMOSIS EYELID
SYNDROME
Blepharophimosis describes both vertical and horizontal shortening of the palpebral fissures.
When this occurs with telecanthus, epicanthus inversus, and congenital ptosis, it is called the
congenital eyelid or blepharophimosis eyelid syndrome.
Two types have been identified.
Type 1 has the classic triad of ptosis, epicanthus inversus, and telecanthus. In addition,
female patients suffer from premature ovarian failure- ultrasonography 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. - geneticist for consultation.
It should be noted there are other syndromes where blepharophimosis is observed.
These syndromes include aniridia, Wilms tumor association, deletion 18p, FGFR3-
associated coronal synostosis, Noonan syndrome, Saethre-Chotzen, and cerebro-
oculofacioskeletal syndromes.
Timing of surgical correction is dependent on
patient’s visual acuity
severity of chin position (compensatory neck extension to see under ptotic eyelids).

Amblyopia more in child with U/L ptosis.

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).
MANAGEMENT
Early cases- Patching.
Severe cases, where early amblyopia is suspected- earlier surgical evaluation
Milder cases can be deferred to a later time, but 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 performed 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, 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. Because most of these patients have
poor levator muscle function, they will need to have a frontalis suspension.
 DEVELOPMENTAL
ANOMALIES OF THE Euryblepharon

LATERAL CANTHUS
EURYBLEPHARON
Euryblepharon is derived from the Latin root eury (wide) and the Greek word
blepharon (pertaining to the eyelid) and describes enlarged palpebral fissures.
Typically, eye findings include a symmetrical, horizontal enlargement of the eyelid.
There is often tight lower eyelid skin with ectropion laterally, poor lid apposition to
the globe, and chronic eye irritation. The lateral canthal tendon can insert anteriorly
and inferiorly, allowing for an appreciable visible space laterally between the eye
and eyelid
Treatment should be directed toward the eyelid 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 procedures may
suffice by redirecting the lateral canthus superiorly and posteriorly to aid in lid
apposition and closure.
DEVELOPMENTAL
ANOMALIES OF • Congenital ptosis
• Eyelid Retraction

EYELID POSITION
PTOSIS
Ptosis represents the most common eyelid malposition in children.
It can result from myogenic, aponeurotic, neurogenic, mechanical, and even
traumatic causes.
Shall be Discussed Separately
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 fissure height of 9 to 10 mm.
 Shallow orbits have greater inferior scleral show- can be a racial variant and not true
lid retraction.
Congenital retraction is rare- can be A/W 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 condition is termed “pseudoretraction” because the maximal stimulation to
lift the contralateral ptotic lid raises the normal lid too high.
Thorough work up may be desirable in the setting of lid height asymmetry or
undesirable scleral show.
Surgical approaches to upper lid retraction include a mu¨llerectomy, spacer grafts,
levator recession, blepharotomy, and tarsorrhaphy.
The decision of which approach to use is partly stylistic but also dependent on the
severity of the lid retraction. An internal approach is used for a mu¨llerectomy.
A levator recession will allow for greater repair of lid retraction . To accomplish this, a
lid crease incision is made through skin and orbicularis and a full-thickness incision is
completed through the levator–Mu¨ller 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.
 DEVELOPMENTAL • Ankyloblepharon
ANOMALIES OF THE • Coloboma
• Crypophthalmos
EYELID FOLD
ANKYLOBLEPHARON
Ankyloblepharon is a congenital fusion between the upper and lower eyelids.
When the adhesion is at the lateral canthus, it is called an external
ankyloblepharon;
When it occurs at the middle canthus, it is called an internal ankyloblepharon.
When there are multiple small strands that are in the middle of the margin, the
defect is called ankyloblepharon filiforme adnatum.
These lid adhesions are easily opened surgically. Concern has been raised for the
medial internal 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
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.
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 continuum 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. M L

In the lower lid, colobomas are usually located in the middle to lateral margin of the
eyelid. M L
True colobomas are full-thickness defects, whereas pseudocolobomas are more of a
bowing of the lower lid margin.
A/W-
Mandibulofacial dysostosis (Treacher-Collins syndrome)
Hemifacial microsomias.
Goldenhar syndrome, where the ocular findings include epibulbar dermoids, dermatolipomas, and
developmental ear anomalies, mandibular hypoplasia on the affected side, and vertebral anomalies.
MANAGEMENT
Initial evaluation of patients with eyelid colobomas must be directed toward
protecting the 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 structures, thereby facilitating easier surgical repair.
Persistent corneal exposure issues - 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 particular, one should maintain a very low threshold for
immediate surgical reconstruction, given the significant 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 assessment 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

 Moderate-sized defects in a young child (25 to 40 percent)-

 an advancement flap is usually needed to accomplish this, combined with a canthotomy and
cantholysis. A semicircular flap is useful for moderate defects, providing adequate closure from both
functional and aesthetic perspectives.
 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 effect; without this step,
an angled scar in the preseptal area rather that a more acceptable horizontal scar hidden in the lid crease
will result.
Artist’s depiction of coloboma repair. After the margins of
the upper eyelid are trimmed to remove epithelium, a lid
crease incision and a lateral canthal incision allow
approximation of the margins of the coloboma. (Center)
Interrupted 5-0 Vicryl sutures reapproximate the tarsus
and 6-0 or 7-0 Dexon sutures are used to close the eyelid
margin. All sutures are positioned beforeanyare tied.
(Below)The ends of themargin sutures are pulled up and
tied into one of the vertical skin sutures.
For larger upper lid colobomatous defects, additional posterior lamellar tissue (tarsus
and conjunctiva) is often required. Although free tarsal grafts from the contralateral
side can be considered, other options
• rotating flap (Mustarde´) or a sliding bridge flap (Cutler-Beard) from the opposing lower lid may be
used. A need of a second stage procedure may be required to separate the flap and to reconstruct the
upper lid margin and donor site in the lower lid.

With either flap, however, the visual axis must be occluded for several postoperative
weeks to ensure that there is adequate vascularization of the flap before separation.
This is a major concern for producing occlusion amblyopia in the young child.
Care must also be taken to ensure that there is at least 4 mm of vertical height from
the lid margin to the horizontal lid incision with either technique to minimize the risk
of lid margin necrosis.
Artist’s depiction of a Mustarde´
rotating flap. An upper lid coloboma
is repaired from a rotating flap from
the opposing lid. Theflap 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.
Cutler Beard Flap technique
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 function and appearance.
For true lower lid colobomas- the manangement is similar to that of upper eye lid
coloboma repair.
CRYPTOPHTHALMOS- HIDDEN
EYE
COMPLETE
PARTIAL CRYPTOPHTHALMOS
CRYPTOPHTHALMOS
No lid fissures- the skin runs from brow There is a segment of eyelid fused to the
to cheek. underlying globe that also frequently
exhibits a coloboma.
The lids fail to fully develop a tarsus,
meibomian glands, lashes, and The rest of the eyelid may be otherwise
orbicularis muscle (fig. 15). normal; however, there are usually
decreased conjunctival fornices.
Microphthalmic eye, with a poorly
formed cornea and an anterior chamber
often exhibiting iris and lens
abnormalities.
 Surgical reconstruction for patients with complete cryptophthalmos presents
a series of near impossible challenges for the reconstructive surgeon.
 Electrophysiologic testing, such as visual evoked potentials, can also be
helpful for patients with partial or complete cryptophthalmos to determine
whether ocular surgery and attempts to construct eyelids should be
undertaken.
CASE 1
DEL-P-19-09-2047
A 2 year old male child presented to us with complaints of difficulty in seeing and
lifting eyelid present since birth
Antenatal history and Birth History were normal
No other co- morbidities
No significant surgical history
No significant family history
O/E- VA- FFL BE
OU – palpebral fissure height- 5 mm
Marcus gun jaw winking –absent
Bells phenomenon- Fair
Corneal sensations- normal
No lagophthalmos
Pupillary axis clear
Patient was followed up yearly
3 years later- child has turned 5 years old
VA- R/E- 6/9, LE- 6/18,
Marcus gun jaw winking –absent
Bells phenomenon- Fair
Corneal sensations- normal
No lagophthalmos
Pupillary axis clear
LPS action was grade 4
Horizontal aperture was 20 mm in both eyes
Intercanthal distance was 40 mm
Patient was posted for BE BPS correction with suture sling operation under GA
CASE 2
DEL-G-21-12-2827
1 year old male child presented to us with complaints of defect in the left upper
eyelid present since birth
Antenatal and birth history was not significant- no birth injury
Co- morbidities- cardiovascular problems- ?ASD
Preauricular skin tag
Genu valgum with calcaneum varus deformity on x ray- diagnosed outside
 Surgical history- OS lid reconstruction with Tenzel flap on 15 november
2021resuturing tried again on 29 nov 2021 as sutures gave away following
infection
No significant family history
Diagnosed as GOLDENHAR SYNDROME
SlitLamp Examination
  Right Eye Left Eye
Eyelids Flat UL coloboma >50%
Conjunctiva Normal Normal
Sclera Normal Normal
Cornea Clear corneal scarring
Anterior Normal in Contents and Depth Normal in Contents and Depth
Chamber PACD = 1 CT PACD = 1 CT
Iris Normal Color and Pattern Normal Color and Pattern
Pupil Round, Regular, Reacting No RAPD Round, Regular, Reacting No RAPD
Patient was posted for Cutler Beard flap Sx.
But patient did not turn up for the surgery.
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. Mustarde´ 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. Ophthalmic Surg. 1986;17:570–572.
8. Beysen D, Vandesmopele J, Messiaen L, De Paepe A, De Baere E. The human FLOXL2 mutation database. Hum
Mutat. 2004;24:189–193.
9. Jones KL. Recognizable Patterns of Human Malformation. Philadelphia: Elsevier; 2006.
Epicanthic folds
Telecanthus
Epiblepharon
Blepharophimosis,
Ptosis
Entropion
Coloboma
Epicanthus inversus syndrome
Crypthophthalmos
Ablepharon
Microblepharon
Euryblepharon
Congenital upper lid eversion
Ankyloblepharon filiforme adnatum