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COLOBOMA
INTRODUCTION
• Coloboma (pl:colobomata) is derived from the Greek word
koloboma,meaning mutilated or curtailed.
• used to ...
ASSOCIATIONS
chromosomal abnormalities
• Triploidy,
• Trisomies :13,18,22
• Duplications :4q,7q 9p,13q,14q,22q,
• Deletion...
eye abnormalities :
• heterochromia
• microphthalmia
• Increased thickness of the cornea
• Cataract
• glaucoma
• retinal d...
CHARGE Syndrome
Basal cell nevus
(carcinoma) syndrome
Congenital contractural
arachnodactyly
Meckel-Gruber syndrome
Sjogre...
A) Without associated systemic abnormality
• Autosomal dominant transmission
– Macular colobomas
• Autosomal recessive tra...
• X chromosome
– Lenz syndrome
– Aicardi syndrome
• Transmission unknown
– CHARGE syndrome
• Chromosomal aberrations
– tri...
ETIOPATHOGENESIS
• due to failure of the fetal /choroidal fissure to close
during 5th - 7th week of fetal life, at 7–14 mm...
CLASSIFICATION
“typical” coloboma
• named so, because it is the most frequent.
• occurs in the inferonasal quadrant,
• cau...
EYELID COLOBOMA
• Eyelids develop from surface mesoderm as mesoblastic folds, at
4–5 weeks from above and below meet at palpebral fissure...
• partial thickness
• full thickness
c/f
• quadrilateral or triangular gap, broadest at the lid margin;
• can affect orbit...
NOUBY’S CLASSIFICATION
History & examination
• Perinatal and pregnancy history
• Family history of congenital eyelid colobomas /other
congenital ...
• Cornea
– Exposure keratopathy
– Opacities
– Cicatrization
• Lens
– Cataract (anterior polar)
– Subluxation
• Sclera
- Ep...
• Treatment of eyelid defects
• depends on the extent of involvement , corneal
decompensation.
• conservative Rx
• Initial...
Small defects well managed with lubricants
• repair delayed until adulthooddirect closure by
apposition of the edges afte...
• Lower lid: modified Hughes procedure:upper lid tarso-
conjunctival flap (for tarsus layer) with retroauricular
skin flap...
IRIS COLOBOMA
• Total /Partial
• Complete /Bridge/Incomplete
complete coloboma
• full thickness defect
• involves both the pigment epith...
incomplete coloboma
• usually partial thickness, involving either the
pigment epithelium or the iris stroma.
• usually wed...
Surgical treatment
• undertaken as part of cataract extraction /PK at any age.
• Post implantation, coloboma is repaired w...
Differential Diagnosis
• Aniridia
• Heterochromia irides
• Iris nevi
• Iris trauma
• Iris atrophy
• Rieger syndrome
Lens coloboma
• not a true coloboma
• secondary to zonular & ciliary body defects.
• No lens tissue is missing but absence of zonular fi...
CILIARY BODY COLOBOMA
• most common congenital defect in the ciliary
body.
• may be visible through the overlying iris
col...
POSTERIOR SEGMENT
COLOBOMA
• choroidal /retinochoroidal coloboma
– macular coloboma
– optic nerve coloboma
– Uveal colobom...
• infrequent, 0.5 to 2.2 cases per 10,000 births
• Histological findings :
– absence of RPE beneath but hyperplastic at th...
Ida Manns classification(1937)
1-above OD
2-superior border of OD
3-seperated from OD by n/l narrow area of retina
4-infer...
symptoms
• depends on amount and location of missing tissue.
– retino choroidal coloboma in early life as leukocoria
– col...
• Near the margin of the coloboma, the retina splits into
two layers at the level of INL/OPLThe inner layer b
comes inter...
Macular colobomata
• usually bilateral, symmetrical, circumscribed and
excavated defects that involve both the choroid and...
optic disc coloboma
• Isolated disc coloboma presents as large,white,
sharply delineated, bowl-shaped excavation of
disc, ...
• associations
– morning glory disc anomaly,
– congenital forebrain anomalies.
– Basal encephalocoeles/herniations of brai...
TREATMENT
• Prophylactic laser treatment atleast in 3-4 rows
posteriorly along the edge of the coloboma and
cryopexy anter...
COMPLICATIONS OF COLOBOMA
• Chorio retinal colobomas retinal detachment
• Dislocations associated with lens colobomes
• A...
GENERAL MEASURES
• effective examination under general anesthesia.
• S/L evaluation to find AS manifestations.
• Choroidal...
Coloboma
Coloboma
Coloboma
Coloboma
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Coloboma

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Coloboma

  1. 1. COLOBOMA
  2. 2. INTRODUCTION • Coloboma (pl:colobomata) is derived from the Greek word koloboma,meaning mutilated or curtailed. • used to describe ocular defects of the eyelids, lens, cornea, iris, ciliary body, zonules, choroid, retina and optic nerve. • typically located in the inferonasal quadrant of the involved structure • often associated with microphthalmia. • Incidence rates: 0.7 per 10,000 • The prevalence of coloboma ∞ among blind adults :0.6–1.9% ∞ among children :3.2–11.2%. • highest prevalence in visually-impaired Japanese school children - 11.2%. • may be sporadic or inherited
  3. 3. ASSOCIATIONS chromosomal abnormalities • Triploidy, • Trisomies :13,18,22 • Duplications :4q,7q 9p,13q,14q,22q, • Deletions : 2p,4p,4del,5,Dq,Dr,11q,13r,18q • Pericentric Inversions Inv(6) • XY Anomalies :XYY
  4. 4. eye abnormalities : • heterochromia • microphthalmia • Increased thickness of the cornea • Cataract • glaucoma • retinal dysplasia • myopia/hyperopia • nystagmus • posterior staphyloma
  5. 5. CHARGE Syndrome Basal cell nevus (carcinoma) syndrome Congenital contractural arachnodactyly Meckel-Gruber syndrome Sjogren-Larsson syndrome Humeroradial synostosis Oral-facial-digital syndrome (type VIII) Walker-Warburg syndrome Lenz microphthalmia syndrome Aicardi syndrome MIDAS syndrome Catel-Manzke syndrome Patau syndrome Edwards syndrome 13q deletion syndrome Wolf-Hirschhorn syndrome Cat-eye syndrome Linear sebaceous nevus syndrome Rubinstein-Taybi syndrome Kabuki syndrome syndromic associations
  6. 6. A) Without associated systemic abnormality • Autosomal dominant transmission – Macular colobomas • Autosomal recessive transmission – rare B) With associated systemic abnormalities • Autosomal dominant transmission – microphthalmia +coloboma with carcinomas, jaw cysts, abnormalities of the ribs and spine and hip, and mental retardation. – arachnodactyly, a marfanoid aspect + uveal coloboma. due to deficient gene on chromosome 5. • Autosomal recessive transmission – Meckel-Gruber syndrome – Sjogren-Larson .
  7. 7. • X chromosome – Lenz syndrome – Aicardi syndrome • Transmission unknown – CHARGE syndrome • Chromosomal aberrations – triploidy , trisomies 13, 18 and 22, duplications 4q +, 7q +, 9p +, 9p + q +, 13q +, 14q +, 22q +, the deletions 2p22, 4p-, 4del (q12q12.1) (P15q23.1), and an XY , XYY anomaly . inversions Inv (6) (p23q23.1) C. environmental causes and intrauterine insults • thalidomide A • Intrauterine vitamin A deficiency,anticonvulsants diphenyl hydantoin and carbamazapine • fetal alcohol syndrome
  8. 8. ETIOPATHOGENESIS • due to failure of the fetal /choroidal fissure to close during 5th - 7th week of fetal life, at 7–14 mm stage ,the period between the invagination of the optic vesicle and the closure of the fetal fissure. • Coloboma eyelid defective eyelid development/ globe. • Coloboma cornea, iris, ciliary body, choroid, retina and ON failed or incomplete closure of embryonic fissure on day 33 of gestation • Coloboma of the lens is a misnomer & is due to defective or absent development of the zonules in any segment lack of tension on the lens capsule contraction and notching of that region.
  9. 9. CLASSIFICATION “typical” coloboma • named so, because it is the most frequent. • occurs in the inferonasal quadrant, • caused by defective closure of the fetal fissure. • may affect any part of the globe traversed by the fissure from iris to the optic nerve. atypical Coloboma • located anywhere other than inferonasal quadrant of the globe • the embryologic basis unclear, several theories suggested. • “rotation” of the fetal fissure or a result of an intrauterine inflammatory process. • Atypical ciliary body coloboma : caused by persistence of mesodermal tissue from the embryonic vascular system blocking the forward growth of the neuroectoderm • Optic nerve pits on the temporal aspect of the disc
  10. 10. EYELID COLOBOMA
  11. 11. • Eyelids develop from surface mesoderm as mesoblastic folds, at 4–5 weeks from above and below meet at palpebral fissure at the 32-mm stage, Fusion :inner canthus regionlaterally completes at 37–45 mm stage. • Structures of the lid margin (Meibomian glands, Moll and Zeiss, cilia, muscle fibers,tarsal plates) differentiate while the lids are fused. • by the end of the 5th month :Epithelial adhesion of the lids begins to break down. CAUSES OF LID COLOBOMA • Failure of adhesion of the lid folds by maternal virus infection • a deficiency in migration • excessive death of neural crest cells • due to 2⁰ to globe abnormalities(controversy)
  12. 12. • partial thickness • full thickness c/f • quadrilateral or triangular gap, broadest at the lid margin; • can affect orbital margin & adnexa localized absence of the eyebrow,anomalous wedge of scalp hair extending toward coloboma,Lacrimal drainage anomalies • Upper lid colobomata • more common • generally isolated with the exception of Goldenhar syndrome, • usually full thickness & occur at the junction of the inner and middle thirds with normal adjacent lid margins • lower lid colobomata • usually seen with mandibulofacial dysostosis (TreacherCollins) • mostly at the junction of the middle and lateral thirds, usually partial thickness, only involving the anterior lamella
  13. 13. NOUBY’S CLASSIFICATION
  14. 14. History & examination • Perinatal and pregnancy history • Family history of congenital eyelid colobomas /other congenital anomalies (eg, cleft lip/palate) • History of other birth defects • Pediatric review of systems • History of progressive corneal problems complete ophthalmic assessment, under GA • Eyelids – Trichiasis – Dermoid tumors – Dermolipomas • Eyebrows - Defects • Lacrimal system -Obstruction proximal to the lacrimal sac • Conjunctiva – Symblepharon – Malformation of the caruncle
  15. 15. • Cornea – Exposure keratopathy – Opacities – Cicatrization • Lens – Cataract (anterior polar) – Subluxation • Sclera - Epibulbar dermoid tumor • Iris – Coloboma • Choroid – Coloboma • CT scan of the orbits and the skull in Treacher Collins syndrome.
  16. 16. • Treatment of eyelid defects • depends on the extent of involvement , corneal decompensation. • conservative Rx • Initial therapy • topical lubricants,e/o,BCL,moisture chambers bandages,bed time patching • Surgical repair • indications: – corneal decompensation by dehydration or trichiasis. – 4 cosmesis • complication :in young children occlusion amblyopia during the healing phase.
  17. 17. Small defects well managed with lubricants • repair delayed until adulthooddirect closure by apposition of the edges after they are mobilized and freshened with sharp incisions & precise anastamosislid margin approximation in 2 layers ,tarsus & skin. • lateral cantholysis  to minimise sutural tension. moderate sized coloboma(70% of the lid) • fashion a pentagonal lid defect to facilitate reapproximation a lateral cantholysis larger defects • immediate closure to protect cornea2 staged reconstruction • procedure employed depends on the lid involved
  18. 18. • Lower lid: modified Hughes procedure:upper lid tarso- conjunctival flap (for tarsus layer) with retroauricular skin flap (for skin layer) • Upper lid: modified Cutler-Beard procedure : lower lid tarso-conjunctival flap (for tarsus layer) with retroauricular skin flap (for skin layer). • Alternate techniques for upper lid or the lower lid: – a semicircular flap from the lateral canthal area (Tenzel or modified Tenzel ) – full-thickness lid rotational flap. Differential Diagnosis • Congenital amniotic band syndrome • Eyelid trauma • Entropion
  19. 19. IRIS COLOBOMA
  20. 20. • Total /Partial • Complete /Bridge/Incomplete complete coloboma • full thickness defect • involves both the pigment epithelium and the iris stroma. • may be : o total, extending to iris root “keyhole pupil” o partial, involving only pupillary margin slightly oval pupil. Bridge coloboma Small strands of mesodermal tissue bridge the coloboma polycoria/may extend to the lens as a persistent pupillary membrane
  21. 21. incomplete coloboma • usually partial thickness, involving either the pigment epithelium or the iris stroma. • usually wedge-shaped • best demonstrated by iris transillumination. • associated with Heterochromia iridis c/f • usually no visual defect, treatment • indicated only for cosmesis • cosmetic contact lens : – resembles normal iris & can be optically corrective also. – designed to match the fellow eye in appearance. – useful for microcornea + coloboma and microphthalmia
  22. 22. Surgical treatment • undertaken as part of cataract extraction /PK at any age. • Post implantation, coloboma is repaired with nonabsorbable sutures/with artificial iris • PCIOL >sulcus placement >ACIOL :IOL preferred • haptics are placed 90⁰ from the defect ,to stabilize implant, advantages : • provide a stable platform for ACIOL. • lens implantation and may prevent Synechiae ,2⁰ ACG. complications • in cataract and microphthalmia postop uveal effusion, RD , intraocular hemorrhage, malignant glaucoma. Prophylaxis • previous or simultaneous sclerotomy or sclerectomy can b done to reduce the incidence of postoperative uveal effusion
  23. 23. Differential Diagnosis • Aniridia • Heterochromia irides • Iris nevi • Iris trauma • Iris atrophy • Rieger syndrome
  24. 24. Lens coloboma
  25. 25. • not a true coloboma • secondary to zonular & ciliary body defects. • No lens tissue is missing but absence of zonular fibers from area of colobomatous ciliary body lack of tension on the lens capsule there Notched equator/ Flattening of the inferior lens /superior lens subluxation. • usually u/l & infero nasal treatment: • dilated eye examinationmanifest refractiontreated with corrective lenses. • If severe & not corrected lens extraction IOL to prevent amblyopia taking care of zonular abnormalities.
  26. 26. CILIARY BODY COLOBOMA • most common congenital defect in the ciliary body. • may be visible through the overlying iris coloboma as white lesions with varying degrees of pigmentation at the margins related to hyperplasia of pigment epithelial cells • no specific treatment for ciliary body colobomata
  27. 27. POSTERIOR SEGMENT COLOBOMA • choroidal /retinochoroidal coloboma – macular coloboma – optic nerve coloboma – Uveal coloboma • If the retina is involved, glial tissue with no underlying RPE or choroidarea of whitening with pigment deposition at the junction of the coloboma and normal retina. • If the optic nerve is involvedrange of appearance from physiologic cupping to extensive retinal involvement
  28. 28. • infrequent, 0.5 to 2.2 cases per 10,000 births • Histological findings : – absence of RPE beneath but hyperplastic at the edge of defect. – The overlying retina is hypoplastic ,gliotic, and has rosettes & if recognizable, the retinal layers are reversed,with rods and cones facing inward and RNFL adjacent to sclera. – Underlying choroid is either hypoplastic or absent – thin sclera with cystic spaces filled with glial proliferation • primarily genetic in origin. • unilateral/bilateral,symmetric/asymmetric. • may go from front to back (continuous) / as “skip lesions”. • iris coloboma (front of the fissure), a chorio-retinal coloboma (back of the fissure), or combination UVEAL COLOBOMA
  29. 29. Ida Manns classification(1937) 1-above OD 2-superior border of OD 3-seperated from OD by n/l narrow area of retina 4-inferior crescent below the disc 5- isolated gap in the line of fissure 6-area of pigmentary disturbance 7-extreme peripheral coloboma 6 7
  30. 30. symptoms • depends on amount and location of missing tissue. – retino choroidal coloboma in early life as leukocoria – coloboma of macula and optic nerve reduced vision. – coloboma of any part of retina absolute scotomata – coloboma of iris & lens asymptomatic ,except glare . signs • RD in retinochoroidal choloboma 23–42%, common in males < 30 yrs • retinal break have higher rate, holes are atrophic, without operculae, and hidden near the edge of the coloboma or under a hemorrhage, and are difficult to localize, due to low contrast in colobomatous area, nystagmus,ectatic sclera, absence of choroid, and thinned retina
  31. 31. • Near the margin of the coloboma, the retina splits into two layers at the level of INL/OPLThe inner layer b comes intercalary membrane on to the coloboma, while the outer layer becomes disorganized, and fuses RPE • The choroid is terminated as a distinct pigmented layer peripheral to this point of reversal. • The junction where this reversal occurs is a locus minoris resistentiae. The intercalary membrane • progressively becomes thinner as it is traced centrally. • Breaks can occur at the junction and in the intercalary membrane
  32. 32. Macular colobomata • usually bilateral, symmetrical, circumscribed and excavated defects that involve both the choroid and retina. • classified into three main types: – pigmented macular coloboma, – nonpigmented macular coloboma, – macular coloboma associated with abn/l c/f • U/l sensory strabismus,with organic amblyopia. • B/l in infancy with poor visual function and nystagmus. DD • toxoplasmosis,Leber’s congenital amaurosis
  33. 33. optic disc coloboma • Isolated disc coloboma presents as large,white, sharply delineated, bowl-shaped excavation of disc, 2–8 D in depth with a rim of neural tissue preserved superiorly . • classified into six types, to help in predicting the degree of visual impairment in optic disc colobomata, particularly in infants and young children • v/a best in type 1,2,3.
  34. 34. • associations – morning glory disc anomaly, – congenital forebrain anomalies. – Basal encephalocoeles/herniations of brain tissue – craniofacial :cleft lip and palate, agenesis of the corpus colosum, defects in the sella turcica, endocrine dysfunction. DD • Optic Nerve coloboma – Morning glory – Congenital optic pits – Optic nerve staphylomata • Retinochoroidal colobomata – inflammatory lesions – causes of leukocoria.
  35. 35. TREATMENT • Prophylactic laser treatment atleast in 3-4 rows posteriorly along the edge of the coloboma and cryopexy anteriorly • If adequate chorioretinal adhesion can be achieved around the coloboma, laser of the papillomacular bundle and OD not done. • complication :creates RNFL defects in eyes with already compromised visual fields so, diode laser is better than argon . • If requiring surgery, initially laser photocoagulation. Vitrectomy and air-fluid exchange with a buckle subsequently. • retinal detachment + choroidal coloboma vitrectomy with either long-acting gas or oil tamponade is done .
  36. 36. COMPLICATIONS OF COLOBOMA • Chorio retinal colobomas retinal detachment • Dislocations associated with lens colobomes • A coloboma and retinoblastoma in 13q- deletion . • Subretinal neovascularizations • corneal complications ( ulcerations )in upper palpebral coloboma.
  37. 37. GENERAL MEASURES • effective examination under general anesthesia. • S/L evaluation to find AS manifestations. • Choroidal, retinal, ON direct and indirect ophthalmoscopy. • Accurate refraction • CT/MRI  microphthalmia and associated CNS d/s. • Axial length by high resolution ultrasonography. • Older patients  VF assessment • severe microphthalmia scleral shells With periodic refitting, • gradual expansion of the fornices with ring-type prostheses. • Orbital growth induced by spherical intraorbital tissue expanders/intraorbital balloon devices/dermis graft to promote the development of symmetrical ocular appearance • safety glasses & goggles for sports in children • trial of part-time occlusion • Strabismus & nystagmus with compensatory face turn is treated surgically. • Genetic counselling wherever necessary

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