Dr. Prabhat Devkota MBBS(TU), MD(NAMS) Ophthalmology Oculoplasty

1. Congenital Anomalies of Eyelids
and Orbit
Dr. PRABHAT DEVKOTA
MBBS(TU), MD (NAMS)

2. Content
• Development of eyelid
• Congenital anomalies of eyelid
• Development of Orbit
• Congenital anomalies of Orbit

3. EMBRYOLOGY OF EYELID
(Brief)

4. Embryology of Eyelids
• Complex ‘inductive interaction’
between mesoderm and ectoderm-
derived tissues
• First sign – appearance of eyelid fold
7th week of gestation
• Fusion of eyelids and eyelid margin
differentiation : 9th week of
gestation
• Separation of lids: 6th month of
gestation
Albert and Jakobiec's Principles and
Practice of Ophthalmology
Source

5. Embryologic and fetal development of the human eyelid – Source

6. Embryology of eyelid
• Complete or partial failure of lid fold development:
cryptophthalmlos, ablepheron, microblepheron
• Failure of fusion of eyelid margin or failure of
mesodermal migration into ectodermal folds:
colobomatous defects
• Incomplete separation of lids: ankyloblepheron,
ankyloblepheron filiform adantum
• Defects of eyelid margin differentiation:
euryblepharon, blepharophimosis, epicanthus

7. CONGENITAL ANOMALIES OF EYELIDS
source

8. Congenital anomalies of eyelids:
1. Anomalies of eyelid margin
• Ankyloblepharon
• Ankyloblepharon Filiform
Adanatum
• Euryblepharon
• Epicanthal folds
• Epiblepharon
• Congenital Entropion
• Congenital Ectropion
• Congenital Distichiasis
2. Anomalies of lid fold
development
• Cryptophthalmos
• Microblepharon
• Ablepharon
• Colobomas

9. 3. Anomalies of fissure:
• Blepharophimosis Syndrome
• Congenital Ptosis
4. Abnormalities of canthal tendon :
• Telecanthus
• Medial Canthal Dystopia
5. Vascular Eyelid Tumors:
• Capillary (Infantile) hemangioma
• Port wine Stain

10. Ankyloblepheron
• Fusion between the upper and lower eyelid
• External- fusion at lateral canthus, most common
• Internal- Fusion at inner canthus
• Usually autosomal dominant, may be sporadic
• May give rise to Pseudoexotropia or pseudoesotropia

11. Bilateral temporal Congenital Ankyloblepharon – Eyewiki (Source)

12. • Part of Autosomal dominant AEC syndrome
(Ankyloblepheron, ectodermal defects and Cleft lip
and palate) – Hay Wells Syndrome
• Also associated with central nervous system, cardiac
anomalies, ectodermal syndromes, popliteal
pterygium syndrome, cleft lip and/or palate,
gastrointestinal abnomalitites
• Treatment:
– Lateral Canthoplasty
– Punctoplasty may be required in internal type

13. Ankyloblepharon Filiforme Adantum
• Presence of isolated strands of extensile tissue
passing between upper and lower lid margins
• Often results in shortening of vertical palpebral
aperture
• Till date reported to be associated with infantile
glaucoma and iridodysgenesis
• Treatment: Dividing the bands
Semantic Scholar- Source

14. Euryblepharon
• Symmetrical enlargement of horizontal palpebral
fissure
• Other features: Downward and anterior
displacement of lateral canthus, ectropion of lateral
third of lower lid, tightness of the lids
• Increased length of lower lid- loss of apposition of lid
to globe- intervening gutter

15. • Usually isolated condition
• Also may be associated with ptosis,
distichiasis, telecanthus, strabismus
or abortive cryptophthalmos
• Treatment:
– Mild cases- observation
– More severe cases: lateral tarsorraphy
may be required, lateral canthal
repositioning
– Excess horizontal length: lateral tarsal
strip or eyelid margin resection
Source
AAO - Source

16. Epicanthal folds
• Medial canthal folds that may result from immature
mid-facial bones or folds of skin and subcutaneous
tissue
• Folds may extend from upper to lower lids towards
the medial canthi
• Pseudoesotropia
Epicanthal Fold - Source

17. • Four types:
o Epicanthus Superciliaris
o Epicanthus Palpebralis
o Epicanthis Tarsalis
o Epicanthus Inversus
Epicanthal folds - Source
Epicanthus –wiki (source)

18. Treatment
• Observation most of the time
• Soft tissue revision surgeries as:
– Y-V plasty (Verwey’s operation)
– Spaeth’s double Z-plasty
– Mustard 4 flap (jumping man) technique
– Roveda’s technique

19. Epiblepharon
• Extra horizontal fold of skin
stretching across the anterior lid
margin, causing cilia to assume a
vertical position
• Common in Asians, mainly
occurring in medial part of lower
eyelid
• Cilia often do not touch cornea
execpt in downgaze
Epiblepharon – AAO pediatrics (Source)

20. • Treatment
– Majority don’t requie treatment
– Corneal epithelial irritation: repair by excision of
excess skin and pretarsal orbicularis muscle
combined with placement of marginal rotation
suture

21. Congenital Entropion
• Inward turning of lid margin towards globe
• Often isolated, may ocassionally occur secondary to
microphthalmous, epiblepharon and anophthalmous
• Often confused with epiblepharon
• Treatment:
– Often require surgical correction
– Hotz procedure
Congenital entropion – Source

22. Congenital Ectropion
• Outward turning of lid margin
• Often associated with blepharophimosis syndrome,
down’s syndrome or ichthyosis;
• Vertical insufficiency of anterior lamella of eyelid
• Chronic epiphora and exposure keratitis
Source Down’s syndrome - Source

23. • Treatment:
– Surgical correction if severe and symptomatic
– Vertical lengthening of anterior lamella with full
thickness skin grafting
– Frequently horizontal tightening of the lateral
canthal tendon is required

24. • Complete eversion of upper eyelids occasionally occurs
• Causes:
– Anterior lamellar inflammation or shortage
– Inclusion conjunctivitis
– Down’s syndrome
• Treatment:
– Topical lubrication, short term patching of both eyes
– Full thickness sutures or temporary tarsorraphy when
necessary followed by definitive repair

25. Congenital Distichiasis
• Extra row of eyelashes in place of
orifice of meibomian glands
• Improper differentiation of embryonic
pilosebaceous units into hair follicles
• Treatment:
– Lubricants and soft contact lens may be
sufficient
– Alternatives: electrolysis, radiofrequency
ablation, eyelid splitting with removal of
follicles
Source – AAO
Source- Medscape

26. Cryptophthalmos
• Unusual condition where the globe and the deeper ocular
structures are covered by a sheet of skin that extends fro
brow to the cheek
• Autosomal recessive condition- U/L or B/L
• Typically occurs in association with Fraser’s syndrome
(cryptophthalmos syndactyly syndrome)
• Two types: Complete and Partial cryptophthalmos

27. Complete type -Source

28. Partial type -Source

29. • Histopathological examination:
– Microphthalmia
– Anterior stromal scarring
– Anterior segment dysgenesis with hypoplasia or absence of
the anterior segment, trabecular meshwork, Schlemm’s
canal
– Dislocated or absent lens
– Atrophy of iris and ciliary body
– Retina and choroid- often have high degree of differentiation
– Orbicularis muscle and levator are well preserved, tarsus is
absent

30. Microblepharon and Ablepharon
• Microblepharon – Unusual deformity,
Small eyelids with shortening in vertical
direction
• Presentation vary from mild vertical
shortening to almost complete
colobomatous absence of the lid
• Ablepharon even rarer, characterized by
complete failure of lid development
• Microblepharon: associated with
inverted duplication of chromosome 12,
trisomy 21 Ablepharon - Source
Microblepharon- Source

31. • Treatment:
– In normal globe- preserve ocular surface
– Mild case- ocular lubrication
– Severe case- reconstruction of anterior lamella of lid
• Abnormal globe: multiple procedures may be
necessary to create socket in which prosthesis can be
manifested

32. Colobomas
• Uncommon, U/L or B/L partial or full
thickness eyelid defect
• Occurs due to :
– Defect in the migration or neural crest
cells
– Amniotic bands, failure of fusion of lid
folds
– Excess vitamin A
– Decreased placental circulation
Source
Billateral coloboma- Source

33. • Upper lid colobomas: majority are isolated,
– Occurs at the junction of middle and inner thirds
• Lower lid colobomas:
– Junction of middle and outer thirds
– Frequent associations like Treacher Collins
Syndrome, Goldenhar syndrome

34. Colobomas
• Treatment:
– Small defects (<30%): direct layered closure after
refreshing up the skin edges
– Medium defects (40-50%): converted in a pentagonal
lid defect by freshening the margins and then closed
with cantholysis and often a semilunar flap
– Larger defects (>50%) : Sliding or rotating
myocutaneous skin flap

35. Blepharophimosis- Ptosis- Epicanthus
Inversus Syndrome (BPES):
• Autosomal dominant, sporadic mutation can occur
• Mutation in FOXL2 gene located on chromosome 3
• Finding:
– Blepharophimosis
– Telecanthus
– Moderate to Severe bilateral ptosis
– Epicanthus inversion
BPES – Source AAO

36. • Two types:
– Type I : with premature ovarian failure
– Type II : without premature ovarian failure
• Treatment:
– Initial medial canthal repositioning with multiple Z-plasties
or Y-V plasties
– Or sometimes combined with repositioning of the the
medial canthal tendons via trans-nasal wiring or suture
fixation to a plate
– Ptosis correction – avoids amblyopia (present in 50%)

37. Congenital ptosis
• Blepharoptosis, droopiness of upper
eyelid
• Reversible cause of peripheral vision
loss- superior visual field usually, central
vision may be affected
• Amblyopia, anisometropia, astigmatism,
strabismus – vertical or horizontal,
lagophthalmos
• Chin elevation – indication for surgery
Source
Source

38. Congenital myogenic ptosis:
• Results from dysgenesis of levator muscle
• Characterized by decreased levator function, eyelid lag
and sometimes lagophthalmos
• Severe form- upper eyelid crease absent or poorly
formed
• Poor Bells phenomenon or vertical strabismus
Source

39. Congenital neurogenic ptosis:
• Caused by denervational defects during embryonic
development
• Commonly associated with
– Congenital cranial nerve III palsy
– Congenital Horner Syndrome or
– Marcus Gunn Jaw winking syndrom

40. Congenital vs Acquired Ptosis
Finding Congenital Ptosis Acquired Ptosis
Levator function Absent or normal Typically normal
Eyelid crease Absent or normal Normal or displaced
superiorly
Fissure width Greater in downgaze Less in downgaze

41. • Treatment:
• Early Surgical intervention: if amblyopia
is present and is related to eyelid
malposition
• Three surgical techniques:
– External levator aponeurosis advancement
– Internal conjunctiva- Muller muscle
resection
– Frontalis Muscle suspensions
Visual obscuring ptosis -Source

42. Eyelid
excursion
Levator
function
Degree of
ptosis
Surgical approach
0mm Absent Severe Frontalis suspension
1-4mm Poor Severe Frontalis suspension or maximal
external levator resection +_
tarsal resection.
5-7mm Fair Moderate External levator resection
8-10mm Good Mild External levator resection
11+ Excellen
t
Mild External levator resection or
internal conjunctiva- muller’s
muscle resection

43. Telecanthus
• Increased distance between the medial
canthi
• Due to abnormally long medial canthal
tendons
• Uncommon ; isolation or in association
with BPES
• Can be confused with hypertelorism
• Treatment:
– Shortening or re-fixation of the medial
canthal tendons to lacrimal crest or
insertion of trans-nasal suture AAO-Source
Source

44. Medial canthal dystopia
• Autosomal dominant
• Abnormal formation of medial canthal tendon –
arrest at 2 months of development
• Features:
– Medial ankyloblepharon
– Telecanthus
– Lateralization of puncti
– Prominent root of nose
Albert and Jakobiec’s - Source

45. • Hyperplasia of medial part of brow
• Heterochromia iridis
• Median white forelock
• Deafness
• Treatment
– Surgery re-establishes normal insertion of medial canthal
tendon

46. Capillary hemangioma
• Unilateral, red, raised lesion
• Lesion usually develops within few weeks or months
after birth, increase in size over first year and involutes
gradually over the next 3-7 years
• Treatment:
– Topical timolol or intralesional steroids
– Other
• Topical clobetasol propionate
• Interferon alfa
• Surgical excision
Source

47. Port Wine Stain
• Also called port wine nevus or nevus
flammeus
• Congenital vascular malformation,
manifest as flat red or pink cutaneous
lesion
• May lighten during first year of life but
then tend to become darker, thicker more
nodular overtime
• Lasers can be used to lighten affected
areas
Dermatology- Source

48. CONGENITAL ANOMALIES OF ORBIT

49. Development of Orbit
• Begins at 6th week of gestation
• Derived form cranial neural crest cells which expand
to form
– Frontonasal process
– Maxillary process
Development - Source

50. • Bones differentiate during 3rd month and later
undergo ossification
• Ossification by enchondral or membranous type
• Growth of orbit corresponds with growth of eyeball
Bones -Source

51. Congenital anomalies of orbit
• Congenital anomalies can affect the orbit in two ways
– Primary defect in the structural architecture of the bony
orbit
– Defects in the development of the globe and orbital soft
tissues can induce secondary changes in the bony orbit

52. • Most congenital anomalies of the orbit can be
classified into one of three categories
– Localized anomalies of the orbit
– Craniosynostosis, or deformities of premature
cranial suture closure
– Facial clefting syndromes

53. Localized anomalies
• Anophthalmos
• Microphthalmos
• Congenital orbital tumors

54. Anophthalmos
• Total absence of tissue of the eye
• Clinical anophthalmos: No clinical or radiographic
evidence of any ocular remnant
• True anophthalmos: verified after careful histologic
sectioning of the orbital tissues
Source
Source

55. • Three types
– Primary anophthalmos : rare and usually
billateral, primary optic vesicle fails to grow out
from cerebral vesicle
– Secondary anophthalmos: rare and lethal, gross
abnormality in the anterior neural tube
– Consecutive anophthalmos: Secondary
degeneration of the optic vesicle

56. • Orbits and eyelids are small but well formed
• Conjunctival fornices decreased in size
• Eye cannot be felt in the orbit on palpation
• Extraocular muscle may be well developed
Billateral Anophthalmis - Source

57. Microphthalmos
• Small eye, with axial length at
least 2SD below the mean axial
length for age
• Spectrum ranges from mild
reduction in A-P axis to
histologically documented
anophthalmia
• Results from incomplete
invagination of optic vesicle or
closure of embryonic fissure
Microphthalmos -Source

58. Anophthalmos and Microphthalmos
• Treatment
• Surgery: cosmetic purpose
• Socket expansion with progressively enlarging
conformers until prosthesis can be placed
• Tissue expanders can be placed in the orbit or sub-
periosteum
• Dermis fat grafts- growth with the patient producing
socket expansion
• Synthetic implants can also be used

59. Anophthalmia and Microphthalmia - Source

60. Congenital orbital tumors
• Dermoid and epidermoid cyst
• Dermolipoma
• Teratoma

61. Dermoid and Epidermoid cysts
• Most common benign orbital tumors of
childhood
• Arise from subcutaneous epidermal nests
or epidermal tissues trapped along bony
suture lines
• Dermoid cyst: if the cyst wall contains skin
appendages
• Epidermoid cyst: lined by epidermis only,
skin appendages are absent
• Common site: lateral brow adjacent to
frontozygomatic suture
Dermoid cyst : Source
Dumbbell dermoid cyst - source

62. • Presentation: painless, smooth, ovoid, firm rubbery
mass, enlarge slowly
• Freely mobile or firmly attached to the periosteum
• Classification of orbital dermoid by their association (or
lack of association) with suture lines
– Juxtasutural
– Sutural
– Soft-tissue dermoid cyst

63. • Surgical removal is the treatment of choice
• Many are located along the superior orbital rim: a
brow incision along the superior orbital rim
• Soft tissue dermoid or sutural dermoid: requires an
approach through an anterior and/or a lateral orbital
route
• Large intradiploic cysts and cysts located along orbital
roof and temporal fossa: transcranial or a temporal
skull base approach

64. Lipodermoid
• Solid tumor, located beneath
conjunctiva over the globe’s lateral
surface
• Benign lesions with deep extensions
that can extend to levator aponeurosis
and extraocualar muscles
• May have fine hair that can be irritating
to the patient
• Treatment:
• Usually require no treatment
• If large and cosmetically unacceptable,
only visible anterior portion should be
excised
Lipodermoid – Yanoff and fine
ocular pathology -Source

65. Orbital Teratoma
• Rare tumors that arise from all 3 germinal layers and
usually cystic
• Severe unilateral proptosis at birth
• Proptosis may increase over few days or weeks of life
and compression of globe can result in corneal
exposure and vision loss
• Globe and optic nerve may be maldeveloped
• Benign but rarely can be highly malignant
• CT imaging reveals the multicystic nature of these
lesions

66. Teratoma
Source

67. Treatment
• Surgical excision
• Combined neurological and orbital approach with
preservation of glove
• Aspiration of fluid facilitate complete removal
• Malignant are resistant to chemotherapy and
radiotherapy, wide surgical excision is required

68. Craniosynostosis
• Premature fusion of one or
more cranial during embryonic
period or early childhood
• Premature suture closure
prevents perpendicular growth
and expansion of unaffected
suture but allows parallel
growth- Virchow’s law, results
cranial bone deformity
Normal cranial suture - Source

69. Craniosynostosis
• Plagiocephaly
• Trigonocephaly
• Kleeblattschadel
Source

70. Craniosynostosis
• Can be isolated or be a part of genetic syndromes
• Usually autosomal dominant
• Often with limb abnormalities (syndactyly,
brachydactyly)
• Mutation in fibroblast growth factor genes or TWIST
gene are found in most cases

71. • Common Craniosynostosis syndromes:
– Crouzen syndrome
– Apert Syndrome
– Pfeiffer syndrome
– Sarthre Chotzen Syndrome

72. Crouzen’s Syndrome
• Includes both coronal sutures
resulting broad, retruding forehead ;
brachycephaly and tower shaped
skull
• Skull base sutures are also involved:
midfacial retrusion
• Ocular findings: hypertelorism,
proptosis with inferior scleral show
• Hydrocephalous , intelligence is
usually normal
• No anomalies of hands and feet
Source

73. Apert’s syndrome
• Skull shape and facial features are
similar to Crouzon syndrome
• Distinguishing feature is extreme
amount of syndactyly
• Hydrocephalus less common,
mental deficiency is present
• Often associated with
genitourinary and cardiovascular
malformations
Source

74. Source

75. Pfeiffer Syndrome
• Have more severe craniosynostosis- cloverleaf
skull
• High risk of hydrocephalous
• Syndactyly is much less severe
• Have characteristic short, broad thumbs and
toes

76. Source

77. Saethre-Chotzen syndrome
• Much milder form
• Plagiocephaly
• Other features: ptosis, low hairline
and ear abnormalities,
brachydactyly and mild syndactyly
• Intelligence is usually normal
Source

78. Craniosynostosis (ocular complications)
• Proptosis
• Corneal exposure
• Globe luxation
• Strabismus
• Optic nerve abnormalities
• Ocular adnexal abnormalities

79. Treatment
• Early intervention:
– Reduce the intracranial pressure
– Permit normal visual and mental development
– Achieve a satisfactory cosmetic result
• Le-fort III osteotomies and bone grafting have been used to
achieve midface advancement to address maxillary
hypoplasia and shallow orbits
• Internal distraction devices for a more gradual but safer and
less morbid technique for midface advancement
• Before 6 monthof age can be managed with small-incision
endoscopic cranotomies and external skull molding devices

80. Craniofacial Clefting
• Developmental arrest
• Etiological theories:
– Failure of neural crest migration
– Failure of fusion of facial process
• Facial clefts in skeletal structures are distributed
around orbit and maxilla, those in soft tissues are
apparent around lids and lips
Cranifacial.org

81. Cranifacial Clefting
• Tessier classification system:
• Based on their location in relation
to the orbit
• Differentiates 15 location from 0-
14
• Cleft axes 0-7: facial clefts
• Cleft axes 8-14: Cranial cleft
• Craniofacial clefting are associated
with hypertelorism,
meningoencephalocele,
oculoauriculovertebral spectrum
Source

82. Orbital Hypertelorism
• Abnormally wide distance between the medial orbital
walls
• An increased interpupillary distance
• Widening of anterior ethmoid air cells is believed to be
main anatomic defect
• Resulting in an increase in soft tissue, bone and cartilage
between the medial canthi
• Associated with a variety of facial clefts, craniosynostosis
and meningoencephaloceles

83. Source

84. Treatment
• Surgical correction, combined intracranial and
extracranial approach
• All four walls of each orbit are osteotomized to free
them from frontal, zygomatic, maxillary, nasal and
spenoid bones
• Excessive intervening tissues are removed and the
orbits are brought closer together in midline

85. Meningoencephalocele
• Intra cranial contents can herniate
through the clefts- meningocele,
encephalocele or meningoencephalocele
• If orbits are involved herniation presents
anteriorly with protrusion
subcutaneously near the medial canthus
or over the bridge of nose
• Straining or crying may increase the size
of the mass, globe displaced
inferolaterally
• Intranasal extension – airway obstruction
• Treatment is surgical

86. Oculoauriculovertebral spectrum
• Hemifacial macrosomia
• Treacher collins syndrome (mandibulofacial
dyostosis)
• Goldenhar syndrome (oculoauriculovertebral
dysplasia)

87. Treacher Collins Syndrome
• Abnormal growth of first and second brachial arches,
with underdevelopment and agenesis of zygoma and
malar eminences
• Autosomal dominant
• Ocular features
– Depressed lateral orbital rims
– Anti-mongoloid slant
– Pseudocoloboma or truw colobomas in outer third of lower
eyelids

88. Treacher Collins Syndrome
• Meibomian glands may be absent
• Inferior punctal agenesis
• Other features:
– Malformed ears and hearing loss
– Hypoplastic mandible- micrognathia
– Normal intelligence

89. Goldenhar Syndrome
• Hemifacial microsomia
• Ocular features:
– Epibulbar dermoids
– Lipodermoids
– Eyelid colobomas
– Microphthalmia
– Cataract
• Other: microtia, facial and preauricular skin tags

90. Other anomalies of orbit
• Pierre Robin sequence:
• Micrognathia, glossoptosis and cleft palate
• Ocular anomalies – retina detachment,
microphthalmia, congenital glaucoma,
cataracts and high myopia

91. Fetal alcohol syndrome
• In utero exposure to ethanol
• Prenatal and post growth retardation, CNS and
craniofacial abnormalities, intellectual disability
• Ocular: Short palpebral fissures, telecanthus,
epicanthus, ptosis, microphthalmia and esotropia

92. Cyclopia/ Synophthalmos
• True cyclopia: rare congenital anomaly
characterized by a single eye situated in a
single median orbit
• Synophthalmos : rare but much more
common than true cyclopia, occur when
paired ocular structures are found in a single
median orbit

93. Orbital Dystopia
• Vertical mis-alignment of the globes
• Congenital orbital dystopia: most common
• Craniosynostosis, hemifacial microsomia and
orbitofacial clefts
• Acquired orbital dystopia:
– Facial and orbital fractures or mass lesions from the orbit
and adjacent structures