Congenital Anomalies of Eyelids and Orbit Dr. Prabhat Devkota.pptx

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 7 th week of gestation Fusion of eyelids and eyelid margin differentiation : 9 th week of gestation Separation of lids: 6 th 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: 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: Epicanthus Superciliaris Epicanthus Palpebralis Epicanthis Tarsalis Epicanthus Inversus Epicanthal folds - Source Epicanthus –wiki (source)

18. T reatment 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 D istichiasis 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 - M edscape

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+ Excellent 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 6 th 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 M icrophthalmos Treatment Surgery: cosmetic purpose Socket expansion with progressively enlarging conformers until p rosthesis 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 C lefting 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