1) Congenital clouding of the cornea, also known as congenital corneal opacities, can be caused by conditions present at birth such as sclerocornea, tears in Descemet's membrane from birth trauma or congenital glaucoma, ulcers from herpes simplex virus or bacteria, or metabolic diseases. 2) The most common causes found in one study were Peters anomaly (40.3%), sclerocornea (18.1%), and dermoid (15.3%). 3) Treatment depends on the underlying cause but may include contact lenses, patching, glaucoma surgery, antiviral medication, or penetrating keratoplasty.

1. CONGENITAL CLOUDING OF
CORNEA
Causes and Management
Presenter : Dr. Rujuta
Moderator : Dr. Monica, Dr. Sangit

2. DEFINITION
 The term “congenital” refers to any condition that is
present in the newborn.
 “Clouding” refers to loss of transparency.

3. “STUMPED” Classification
 S – Sclerocornea
 T – Tears in descemet’s membrane
Congenital Glaucoma
Birth trauma
 U – Ulcer
Herpes simplex virus
Bacterial
Neurotrophic
 M – Metabolic (rarely present at birth)
Mucopolysaccharidoses
Mucolipidoses
Tyrosinosis

4. Classification continued…
 P – Posterior corneal defect
Peter’s anomaly
Posterior keratoconus
Staphyloma
 E – Endothelial dystrophy
Congenital hereditary
endothelial dystrophy
Stromal : Congenital hereditary
stromal dystrophy
 D- Dermoid

5. INCIDENCE
 The most common primary cause of congenital
corneal abnormalities was *
 Peters anomaly (40.3%), followed by
 Sclerocornea (18.1%)
 Dermoid (15.3%)
 Congenital glaucoma (6.9%)
 Birth trauma, and metabolic disease (2.8%)
* Rezende RA, Uchoa UB, Uchoa R, Rapuano CJ, Laibson PR, Cohen EJ.
Congenital corneal opacities in a cornea referral practice. Cornea. 2004
Aug;23(6):565-70.

6. SCLEROCORNEA
 Sclerocornea is a primary
anomaly in which
scleralization of the
peripheral part of
cornea, or of the entire
tissue, occurs.
 A type of mesodermal
dysgenesis
 Non progressive, usually
bilateral, asymmetric

7. SCLEROCORNEA continued…
 ISOLATED PERIPHERAL SCLEROCORNEA:
Abrupt change from
scleral-like tissue to
clear cornea without
any other ocular
abnormalities.

8. SCLEROCORNEA continued…
 SCLEROCORNEA PLANA:
Flat cornea with high hyperopia. Pseudoptosis can be
seen because the flat cornea poorly supports the
upper lid.
 SCLEROCORNEA ASSOCIATED WITH ANTERIOR
CHAMBER CLEAVAGE ANOMALIES

9. SCLEROCORNEA continued…
 TOTAL SCLEROCORNEA:
Most common form causing congenital corneal
opacity.

10. SCLEROCORNEA continued…
 HISTOPATHOLOGY :
 Precise arrangement of stromal lamellae absent
 Diameter of collagen fibrils is increased upto
1500A resembling that of scleral fibrils
 Stromal vascularisation present
Normal cornea Abnormal cornea

11. SCLEROCORNEA continued…
 INVESTIGATIONS :
 UBM for Diagnosis
Identifying potential structural abnormalities
Surgical planning by identification of pupil
 MANAGEMENT :
Unilateral disorder: Surgery can be performed
only if other ocular structures are normal
Bilateral disorder: Penetrating keratoplasty

12. TEARS IN DM :
CONGENITAL GLAUCOMA

13. CONGENITAL GLAUCOMA
continued… Cause :
 Sporadic
OR
 Mutation in CYP1B1 gene on Chr 2p21

14. CONGENITAL GLAUCOMA
continued…
 SIGNS : Raised IOP
Corneal enlargement
and clouding
Corneal diameter >10-10.5mm
Optic nerve cupping
Increased axial length
Gonioscopic abnormalities

15. CONGENITAL GLAUCOMA
continued…
 PATHOPHYSIOLOGY :
Raised IOP
Rapid
enlargement
of eye
Stretching of
cornea
Breaks in
Descemet’s
membrane
Endothelial
barrier is
disturbed
Corneal
oedema and
clouding

16. CONGENITAL GLAUCOMA
continued…

17. CONGENITAL GLAUCOMA
continued…
 MANAGEMENT :
 Goniotomy and Trabeculotomy
Success rate of 80% in infantile glaucoma, esp. when
performed between 1st month and one year of age
if failed
 Trabeculecomy/ Shunt procedures

18. CONGENITAL GLAUCOMA
continued…
 OUTCOME OF SURGERY :
 Primary combined trabeculotomy-trabeculectomy
offers a viable surgical option in infants that have
cloudy corneas at birth as a result of congenital
glaucoma. It is associated with a favourable visual
outcome and a low rate of anaesthetic complications
in an Indian population. *
*Mandal AK, Gothwal VK, Bagga H, Nutheti R, Mansoori T. Outcome
of surgery on infants younger than 1 month with congenital
glaucoma. Ophthalmology. 2003 Oct;110(10):1909-15.

19. CONGENITAL GLAUCOMA
continued…
 OUTCOME OF SURGERY :
 Primary combined trabeculotomy-trabeculectomy is
safe and effective for developmental glaucoma when
performed within 6 months of birth. It leads to
excellent IOP control and good visual outcome.*
*Mandal AK, Bhatia PG, Bhaskar A, Nutheti R. Long-term surgical and
visual outcomes in Indian children with developmental glaucoma
operated on within 6 months of birth. Ophthalmology. 2004
Feb;111(2):283-90.

20. CONGENITAL GLAUCOMA
continued…
 OUTCOME OF SURGERY :
 Simultaneous bilateral primary combined
trabeculotomy-trabeculectomy is safe and effective
for developmental glaucoma. It obviates the need for
long second anaesthesia with its attendant risks.*
* Mandal AK, Bhatia PG, Gothwal VK, Reddy VM, Sriramulu P, Prasad
MS, John RK, Nutheti R, Shamanna BR. Safety and efficacy of
simultaneous bilateral primary combined trabeculotomy-trabeculectomy
for developmental glaucoma. Indian J Ophthalmol. 2002 Mar;50(1):13-9.

21. TEARS IN DM : BIRTH TRAUMA
 Cause : Placement of forceps blade across the
globe and orbit during delivery leading to rupture
of Descemet’s membrane
 Associated soft tissue injury: Unilateral periorbital
oedema and ecchymoses

22. BIRTH TRAUMA continued…
Acute elevation in IOP
Globe distends
Exceeds elasticity of Descemet’s
membrane
Descemet’s tears
Cornea imbibes
aqueous
Stromal and epithelial
oedema

23. BIRTH TRAUMA continued…
Endothelium resurfaces the posterior
cornea
Synthesizes a new thick basement
membrane
Fills in the gap due to tears
Corneal oedema disappears in weeks
to months

24. BIRTH TRAUMA CONGENITAL GLAUCOMA
Normal IOP High IOP
Normal corneal diameter Large corneal diameter with
buphthalmos
Corneal oedema in the immediate
postpartum period
Corneal oedema weeks to months after
birth
Corneal oedema clears after weeks to
months
Corneal oedema clears after lowering
IOP
Tears in DM are vertical or oblique Tears in DM are horizontal or
concentric to limbus
Left eyes are more frequently affected
and other soft tissue injuries may
accompany the trauma
No preference for either eye
Usually no photophobia Photophobia

25. BIRTH TRAUMA continued…
 MANAGEMENT :
 1st choice of treatment is RGP contact lens and
patching
 Refraction for glasses or contact lens should be
performed as soon as possible > prevents amblyopia
secondary to severe astigmatism
 Patching is necessary to treat amblyopia
 Later in life, if endothelium decompensates,
penetrating keratoplasty to restore vision

26. BIRTH TRAUMA continued…
 MANAGEMENT AT A LATER AGE:
 Sub-Bowman keratomileusis for high cylindrical error
secondary to birth trauma-related Descemet’s scars
appears to have a stable, safe and effective follow-up
over 1 year. However, longer follow-up and more cases
are required to conclusively predict the usefulness of
this procedure.*
*Amar Agarwal. Case study: Obstetric forceps injury leads to Descemet’s
membrane scar. Sub-Bowman keratomileusis was utilized in a 30-year-old
man who had high cylindrical error secondary to birth trauma-related
Descemet’s scars. Ocular Surgery News U.S. Edition, March 10, 2011

27. ULCERS
 Herpes simplex virus
 Rubella
 Bacterial
 Neurotrophic

28. ULCER - HSV
 NEONATAL OCULAR HSV INFECTION:
This diagnosis must be considered in any newborn
with conjunctivitis or keratitis.
 Risk factors : History of genital herpes in the mother
Use of a fetal scalp monitor
 Ocular manifestations : within 2 days to 2 weeks of
life

29. ULCER – HSV continued…

30. ULCER – HSV continued…
 DIAGNOSIS :
 Scrapings from the cornea or conjunctiva may
demonstrate the virus by flourescein antibody or
peroxidase antibody staining
 Electron microscopy can detect virus particles in
tears
 Immunologic testing using commercial kits
 Acute and convalescent serum titers to confirm
primary infection

31. ULCER – HSV continued…
 MANAGEMENT :
 Prophylactic :
 Mother with genital herpes : Cesarean delivery and
limiting the use of invasive monitors at the time of
labor.*
Antiviral treatment using acyclovir, penciclovir,
valacyclovir, and famciclovir in third trimester prior
to delivery**
*Brown ZA, Wald A, Morrow RA, et al. Effect of serologic status and cesarean
delivery on transmission rates of herpes simplex virus from mother to infant.
JAMA 2003; 289:203.
**Hollier LM, Wendel GD. Third trimester antiviral prophylaxis for preventing
maternal genital herpes simplex virus (HSV) recurrences and neonatal infection.
Cochrane Database of Systematic Reviews 2008, Issue 1. Art. No.: CD004946.

32. ULCER – HSV continued…
 MANAGEMENT :
 Prophylactic :
 Neonate : Intravenous acyclovir treats systemic
disease, but therapeutic levels are also achieved in
aqueous and tears.

33. ULCER – HSV continued…
 Additional topical therapy :
 Trifluorothymidine 5-9 times/day
 Vidarabine or Acyclovir ointment (Idoxuridine is not
effective)
 Skin lesions : Warm compresses,
Topical acyclovir ointment
Topical antibiotic ointments like
bacitracin, erythromycin
 Monitor for CNS or disseminated disease

34. ULCER – RUBELLA
 CONGENITAL RUBELLA :
 Uncommon cause of congenital corneal opacity
 It is acquired by the fetus transplacentally during 1st
trimester of gestation
 Diagnosis : History
Typical visceral, radiographic anomalies
Viral cultures of the throat, urine, secretions
 Confirmatory test : Rubella specific IgM in the cord
serum

35. ULCER – RUBELLA continued…
 MANAGEMENT :
 Isolated opacification resolves spontaneously.
 If persists, penetrating keratoplasty can be performed.

36. ULCER - BACTERIAL

37. ULCER – BACTERIAL continued
 ETIOLOGY IS MULTIFACTORIAL
 Exposure to many bacteria in the birth canal
 Duration of exposure
 Integrity of ocular surface
 Adequacy of antibiotic prophylaxis

38. ULCER – BACTERIAL continued
 GONORRHOEAL OPHTHALMIA NEONATORUM :

39. ULCER – BACTERIAL continued
 In developing countries the prevalence of gonorrhoea
in pregnant women is between 3% and 15%. The rate
of transmission from mother to newborn is between
30% and 50%.*
 Prophylaxis by instillation immediately after birth of
either 1% silver nitrate eye drops or 1% tetracycline
eye ointment is very effective. This reduces the GCON
incidence by 80% to 95%*
*M. Laga, A. Meheus, and P. Piot. Epidemiology and control of
gonococcal ophthalmia neonatorum. Bull World Health
Organ. 1989; 67(5): 471–477.

40. ULCER – BACTERIAL continued
 TETRACYCLINE AND POVIDONE IODINE :
 Tetracycline ointment 1% was found to be marginally
more effective against infective ON than povidone
iodine solution 2.5%. For these reasons, tetracycline,
rather than povidone iodine, is recommended for
prevention of ON.*
* David M, Rumelt S, Weintraub Z. Efficacy comparison between povidone
iodine 2.5% and tetracycline 1% in prevention ofophthalmia neonatorum.
Ophthalmology. 2011 Jul;118(7):1454-8. Epub 2011 Mar 25.

41. ULCER – BACTERIAL continued
 MANAGEMENT :
 Systemic treatment with Penicillin G
 Saline irrigation of fornices
 Beta lactamase producing N. gonorrhoeae -
Intravenous cefotaxime
 Pseudomonas – Fortified gentamicin or
tobramycin drops
 Chlamydia – Systemic erythromycin

42. ULCER - NEUROTROPHIC
Deficient corneal innervation
Decreased tearing,
Decreased corneal sensation
Sterile corneal ulceration
 Familial dysautonomia : Generalized
dysfunction of the autonomous nervous system

43. ULCER - NEUROTROPHIC
 MANAGEMENT :
 Topical lubrication with preservative-free artificial
tears, gels, and ointments
 Amniotic membrane grafting :
The success rate of AMG in the patients
with neurotrophic ulcer was found to be 93.3%*
* Park JH, Jeoung JW, Wee WR, Lee JH, Kim MK, Lee JL. Clinical efficacy of
amniotic membrane transplantation in the treatment of various ocular surface
diseases. Cont Lens Anterior Eye. 2008 Apr;31(2):73-80. Epub 2008 Jan 30.

44. METABOLIC DISEASES
 MUCOPOLYSACCHARIDOSIS :
 Inherited lysosomal enzyme deficiencies leading to
accumulation of GAGs in the cells and extracellular
matrix of the cornea.
I-H: Hurler VI: Maroteaux
Lamy
I-S: Sheie IV: Morquio
AR AR AR AR
Severe clouding
within 1st few
years
Severe clouding
within 1st few
years
Corneal
clouding from
birth, slowly
progresses
Corneal
clouding after 10
years of age

45. METABOLIC DISEASES
 MUCOLIPIDOSIS :
 Neuraminidase deficiency resulting in accumulation
of sphingolipids, glycolipids, and acid
mucopolysaccharides .
 4 types : Type I, II, III, IV out of which type IV causes
the most severe corneal clouding

46. PETER’S ANOMALY
 Most common congenital opacity requiring
penetrating keratoplasty
 It is a congenital disorder characterised by central
corneal opacity with corresponding defects in
posterior stroma, Descemet’s membrane and
endothelium.

47. PETER’S ANOMALY continued..
 Peripheral cornea is relatively
clear.
 Synechiae extend from iris
collarette to the edge of he
posterior corneal defect.
 Associated with lenticular
abnormalities like cataract,
corneolenticular adhesions.

48. PETER’S ANOMALY Classification
Type I Corneal Opacity +
Iridocorneal Adhesions
Type II Corneal Opacity +
Iridocorneal Adhesions + Lens
abnormality
Unilateral involvement Frequently bilateral
Central opacity bordered by iris strands
that cross the AC from iris collarette
Dense opacity with lens directly
adherent to posterior corneal surface
Peripheral cornea usually clear
Lens usually clear May be clear or cataractous
Good visual acuity potential
Systemic abnormalities uncommon Severe ocular and systemic
malformations

49. PETER’S ANOMALY continued..
 CAUSES :
 Incomplete central migration of the neural crest cells
 Teratogenic exposures, like intrauterine infection, and
maternal alcoholism
 Incomplete development of angle is common, leading
to glaucoma.

50. PETER’S ANOMALY continued..
 MANAGEMENT :
 If the anomaly is bilateral and visually disturbing,
corneal transplantation is often required.
 Additional surgical procedures including
lensectomy, vitrectomy, total iridectomy, regrafting,
glaucoma surgery are required. But they worsen the
prognosis.
 Hence if peripheral cornea is clear, and there is no
cataract, a peripheral iridectomy can be done to
create a new visual axis.

51. POSTERIOR KERATOCONUS
 Very uncommon
 Local conical internal
protrusion of posterior
corneal curvature with
concomitant stromal
thinning and haze.
 Non progressive disorder.
Cause unclear.
 Vision is usually
acceptable; keratoplasty is
rarely indicated.

52. CONGENITAL ANTERIOR
STAPHYLOMA
 Protuberant congenital corneal opacity.
 Secondary epithelial metaplasia into keratinized,
stratified squamous epithelium occurs.
 Cause : Probably secondary to an intrauterine
infection or related to developmental abnormality
such as Peter’s anomaly.
 MANAGEMENT :
 Visual prognosis is poor.
 Enucleation or Evisceration
may be considered for cosmesis.

53. CONGENITAL HEREDITARY
ENDOTHELIAL DYSTROPHY
 Rare disease with AD or AR inheritance.
 AD CHED mapped to pericentromeric region of
chr20.
 AR CHED also mapped to same gene but different
locus.
 AD form does not cause congenital corneal
opacification.
 AR form generally presents as bilateral corneal
clouding at birth

54. CHED continued…
 PATHOGENESIS :
Primary dysfunction
and degeneration of
endothelium
Increased
permeability
Diffuse corneal
oedema and
clouding
Abnormal and
accelerated
Descemet’s secretion
Thickening of DM

55. CHED continued…
 DIAGNOSIS :
 Differentiating CHED from congenital glaucoma is
difficult because measurement of IOP may give
unreliable results in presence of stromal oedema.
 It is important to distinguish between CHED and
PPMD because the oedema in PPMD may show
clearing so that PK may not be needed.
 MANAGEMENT :
 Penetrating keratoplasty to avoid amblyopia.

56. POSTERIOR POLYMORPHOUS
DYSTROPHY
 Similar to CHED
with AD
inheritance.
 Cause- Primary
dysfunction of
corneal
endothelium.

57. PPMD continued…
 Epithelialization of endothelial
cells.
 Features range from mild
endothelial defects to severe
stromal and epithelial oedema.
 MANAGEMENT :
 PK if cornea does not clear
spontaneously.

58. CONGENITAL HEREDITARY
STROMAL DYSTROPHY
 Central, bilateral and
symmetric
 Cause : Corneal lamellar
irregularities in the anterior
stroma
 Stationary from birth
 MANAGEMENT :
 PK if opacification is severe

59. DERMOID
 Dermoids are solid benign congenital tumors that
frequently arise at the inferotemporal corneoscleral
junction.
 Classified as choristomas because they contain
cellular elements not normally present in that
location.
 Genetically mapped to ChrXq24-qter

60. DERMOID
Grade I Grade II Grade III
Most frequent Rarest
Small (5mm) Larger
Single
Inferotemporal limbus Entire corneal surface
Superficial Variable depth of stromal
extension
Entire anteror segment is
involved
33% a/w Goldenhar
syndrome

61. DERMOID
 MANAGEMENT :
 Correction of astigmatism with spectacles
 Patching to treat amblyopia
 SURGERY :
 Complete excision flush with corneal surface, with
lamellar graft
 If central cornea is involved, penetrating and lamellar
keratoplasty are vision restoring procedures.

62. PK for CONGENITAL CORNEAL
OPACITIES :
 Indications:
Bilateral congenital opacities
Controlled glaucoma with opacification
Chronic corneal oedema
 Relative contraindications:
Poor cooperation from parents
Amblyopia
Perforation
Normal fellow eye

63. PK for CONGENITAL CORNEAL
OPACITIES :
 Contraindications :
Uncontrolled glaucoma
Infection
Poor tear secretion
Reference : From Pediatric Ophthalmology and Strabismus By Kenneth
Weston Wright

64. PK for CONGENITAL CORNEAL
OPACITIES :
 OUTCOME OF SURGERY IN INFANTS :
 First graft survival at 12 months was 61%
 Peter's anomaly, lensectomy, and repeat penetrating
keratoplasty were factors most highly associated with
poor graft survival and a low final visual acuity.*
*Comer RM, Daya SM, O'Keefe M. Penetrating keratoplasty in infants.
J AAPOS. 2001 Oct;5(5):285-90.

65. PK for CONGENITAL CORNEAL
OPACITIES :
 OUTCOME OF SURGERY IN INFANTS :
 Surgery must be performed early to avoid amblyopia.
Prompt postoperative optical rehabilitation,
combined with occlusion therapy when appropriate,
is an important determinant of success.*
*Reidy JJ. Penetrating keratoplasty in infancy and early childhood. Curr Opin
Ophthalmol. 2001 Aug;12(4):258-61.

66. CHALLENGES IN MANAGEMENT
 Recurrent examination, suture removal is difficult
in children
 Risk of anaesthesia for repeated surgeries
 Stimulus deprivation amblyopia
 Glaucoma
 TAKE HOME MESSAGE
 The prognosis is less than optimum. Parents need
to be counselled properly to avoid psychological
impact.

67. Thankyou!