This document presents a case of congenital glaucoma in an 8-year-old female. Examination under anesthesia revealed increased intraocular pressure and a hazy cornea in the left eye, while the right eye was normal. A provisional diagnosis of congenital glaucoma in the left eye was made. Medical treatment was initiated but surgery was declined. The patient was followed up regularly with good intraocular pressure control on medication. The document then reviews definitions, epidemiology, genetics, classifications, theories of development and clinical features of congenital glaucoma.

1. CASE PRESENTATION
Presenter- Dr. Ajinkya Kulkarni
Moderator- Dr. Rita Dhamankar

2.  Age- 8 years
 Sex- Female
 Address- At post somtane Panvel

3. Chief complaints
First day-06/08/2013
 Informant - Mother
 (LE) Bigger than (RE) since childhood

4. History of presenting illness
 Apparently 8 days back she had history of fall, when
she noticed diminution of vision in left eye

5.  No ho pain , redness, watering.
 No ho trauma
 No ho similar complaints in the other eye.

6.  BIRTH HISTORY
 Full term normal delivery born out of non
consanguineous marriage
 No h/o any delayed milestones
 No h/o antenatal maternal infection

7. • PAST HISTORY
No history of any treatment taken in past.
• FAMILY HISTORY
Not significant

8.  GENERAL PHYSICAL EXAMINATION-
 Normal
 SYSTEMIC EXAMINATION-
 Normal

9. Ocular examination
 Head posture- Erect
 Facial symmetry- symmetrical
 Left eye looks bigger than the right eye.

10. Anterior Segment

11. Visual acuity
 BCVA –
 (RE) – 6/6 , N6
 (LE) – FCCF , PR Inaccurate
Pupil – (RE) RRTL (LE) RAPD Grade 3
Advice –
Examination under Anaesthesia

12. Structure Right eye Left eye
lids Normal Normal
Conjunctiva Normal Normal
Cornea Clear
Horizontal – 12 mm
Vertical – 12 mm
Hazy cornea
Horizontal – 16 mm
Vertical – 15 mm
Anterior chamber Quiet Normal depth , quiet
Anterior segment examination

13. Anterior segment examination
Iris Normal in colour and
pattern
Normal in colour and
pattern
Pupil Round, regular and
reacting to light
Fixed , Mid-dilated
Lens Clear Clear

14. Intraocular pressure
 On Perkins tonometer-
(RE) – 14 mmhg
(LE) – 40mmhg

15. OD gonioscopy

16. OS Gonioscopy

17. OD Fundus

18. OS Fundus

19. Fundus
OD OS
Glow Present Present
Media Clear Clear
Disc Small Small
cup:disc 0.2:1 0.9:1, Thin nasal rim seen
Pallor
Macula Foveal reflex present Foveal reflex present
Background Normal Normal

20. Provisional diagnosis
 Right eye WNL
 Left eye Congenital Glaucoma

21.  She was advised - LEFT EYE
1. e/d Timolol maleate 0.5% 2 times/day in left eye
2. Tablet Acetazolamide 60 mg 3 times/day for 3 days
 She was advised to review after 1 week for IOP
evaluation.
 On 1 week follow up , IOP was (RE) 14 mmHg &
(LE) 28 mmHg
Parents were not keen to opt for surgery in the Left
eye & visual prognosis was poor, hence
She was advised to continue e/d Timolol maleate 0.5
% in left eye

22.  Subsequently patient was followed up with intervals
of 2-3 months for IOP evaluation.
 Her IOP was well controlled throughout.

23. CONGENITAL GLAUCOMA

24. Definition
 Relating to age of onset
 Congenital glaucoma: The glaucoma exists at birth,
and usually before birth.
 Infantile glaucoma: Occurs from birth until 3 years of
life.
 Juvenile glaucoma: Occurs after the age of 3 to
teenage years

25.  Developmental glaucoma: Glaucoma associated with
developmental anomalies of the eye present at birth.
 Primary developmental glaucoma: Resulting from
maldevelopment of the aqueous outflow system.
 Secondary developmental glaucoma: Resulting
from damage to the aqueous outflow system due to
maldevelopment of some other portion of the eye,
e.g., angle closure due to pupillary block in a small
eye, or an eye with microspherophakia or dislocated
lens; or as a forward shift of the lens-iris diaphragm in
persistent hyperplastic primary vitreous or
retinopathy of prematurity.

26. Epidemiology & Demographics
 Incidence – one in 10-15,000 live birth
 75% cases bilateral,
 65% are male
 75 % present in 1st year of life

27. Genetics
 Most of cases are sporadic.
 Transmission pattern is autosomal recessive.
 Many cases shows polygenic transmission
 Two genetic loci GLC3A, CYP1B1 gene on it and GLC3C ,
LTBP2 gene on it have been identified

28. Classification
1. Primary glaucomas
A. Congenital open angle glaucoma
B. Juvenile glaucoma
C. Associated with ocular abnormalities
D. Associated with systemic abnormalities
A. Chromosomal disorders
B. Connective tissue abnormalities
C. Metabolic disease
D. Phacomatoses
E. Other

29. 2. Secondary glaucomas
A. Traumatic glaucoma
B. Secondary to intraocular neoplasm
C. Secondary to uveitis
D. Lens – induced glaucoma
E. After surgery for congenital cataract
F. Steroid induced glaucoma
G. Secondary to rubeosis
H. Secondary angle closure glaucoma
I. Malignant glaucoma
J. Associated with raised intra ocular pressure

30. Shaffer-Weiss classification
1. Isolated congenital glaucoma (infantile glaucoma)
2. Glaucomas associated with congenital anomalies
1. Aniridia
2. Sturge-Weber syndrome
3. Neurofibromatosis
4. Marfan syndrome
5. Pierre Robin syndrome
6. Homocystinuria
7. Goniodysgenesis
8. Lowe’s syndrome
9. Microspherophakia , PHPV
3. Acquired glaucomas in infants
1. Retrolental fibroplasia
2. Tumors- retinoblastoma, juvenile xanthogranuloma

31. Hoskin’s anatomical classification
 1. Goniodysgenesis,
 2 Trabeculodysgenesis,
 3. Irido-dysgenesis and
 4. Corneodysgenesis

32. Development of Anterior Chamber angle –
Theories
1. Atrophy or resorption (i.e. progressive
disappearance of portions of fetal tissue)
2. Cleavage (i.e. separation of to preexisting tissue
layers due to differential growth rates)
3. Rarefaction (i.e. mechanical distention due to
growth of the anterior ocular segment)

33.  Anderson – at 5months of gestation, anterior surface
of iris inserts at the edge of corneal endothelium,
covering the cells which will finally form the TM –
fetal pectinate ligament
 Later the iris and ciliary body recede posteriorly and
the iris insertion and ciliary body overlap the
posterior portion of the trabecular meshwork.

34. Theories of abnormal development in congenital
glaucoma
 Mann (1928)- incomplete atrophy of anterior
chamber mesoderm
 Barkan(1955) - formation of membrane.
 Allen et al.(1955)- incomplete cleavage of mesoderm
in angle
 Maumenee (1959) -abnormal anterior insertion of
the ciliary musculature into TM
 Smelser and Ozanics(1971) -failure of rearrangement
of angle structures into normal trabecular meshwork

35.  Isolated trabeculodysgenesis is the hallmark of
primary developmental glaucoma.
 Isolated trabeculodysgenesis
 Flat iris insertion
 Anterior insertion
 Posterior insertion
 Mixed insertion
Concave (wrap-around) iris insertion

36.  Iridotrabeculodysgenesis
 Anterior stromal defects
 Hypoplasia
 Hyperplasia
 Anomalous iris vessels
 Persistence of tunica vasculosa lentis
 Anomalous superficial vessels
 Structural anomalies
 Holes
 Colobomata
 Aniridia

37.  Corneotrabeculodysgenesis
 Peripheral, e.g., Axenfeld’s anomaly
 Midperipheral, e.g., Rieger’s anomaly
 Central e.g., Peter’s anomaly, anterior
staphyloma, AC cleavage syndrome, or
posterior corneal ulcer of von Hippel
 Corneal size, e.g., microcornea or macrocornea


38. What Happens
Raised IOP
Rapid
enlargement
of eye
Stretching of
cornea
Breaks in
Descemet’s
membrane
Endothelial
barrier is
disturbed
Corneal
oedema and
clouding

39. Clinical features
 Classic Triad of symptoms
1. Epiphora
2. Photophobia
3. Blepharospasm

40.  Sclera – thin ,appears blue due to underlying uveal tissue.
 Lens - flat due to stretching of zonules and subluxate.
 Optic disc may show variable cupping and atrophy
especially after third year which is reversible after IOP
control.
 Axial myopia may occur because of increase in axial
length which may give rise to anisometropic ambylopia.

41. EUA
1. Refraction - using streak retinoscope
2. Corneal findings
3. IOP
4. Gonioscopy
5. Ophthalmoscopy

42. Corneal findings
 Corneal diameter – distension of globe due to raised
IOP→ enlargement of cornea ( especially at corneoscleral
junction)
 Corneal enlargement from PCG predominantly occurs
before the age of 3 years, but the sclera may be deformable
until approximately 10 years of age.

43. Corneal findings
 Corneal edema in PCG is initially simple epithelial
edema due to elevated IOP
 Untreated, the edema progresses to stromal
scarring and irregular corneal astigmatism
 Haab’s Striae –
 These striae are typically horizontal and linear when they occur
centrally in the cornea, but parallel or curvilinear to the limbus
when they occur peripherally

44. IOP
 The type of anesthesia and the type of tonometer are
important.
 Halothane may falsely underestimate
 Ketamine may over estimate IOP.
 IOP should be checked immediately after intubation
to avoid falsely low recordings

45. Tonometer
 Perkins hand-held applanation tonometer or
electronic (Tonopen) tonometer is commonly
employed.
 The normal IOP in an infant is slightly lower than in
an adult, but 21 mm Hg remains a useful upper limit.

46. Normal IOP by Age

47. Gonioscopy
 The Koeppe 14–16 mm lens with a hand-held slit-lamp or
Barkan light and hand-held binocular microscope provides
a good view of the angle.
 In the normal newborn eye, the iris usually inserts
posterior to the scleral spur.
 In PCG, the iris commonly inserts anteriorly directly into
the trabecular meshwork
 This iris insertion is most commonly flat, although a
concave insertion may be rarely seen

48. Vessels in the angle
 Although the angle is usually avascular, loops of
vessels from the major arterial circle may be seen
above the iris (“Loch Ness Monster phenomenon”).
 In addition, the peripheral iris may be covered by a
fine, fluffy tissue (“Lister’s morning mist”).

49. Ophthalmoscopy
 A direct ophthalmoscope or a Koeppe contact lens
can be used for this purpose.
 Asymmetry , CDR >0.3
 Configuration-round, steep walled, central, tends to
enlarge circumferentially and reversible
 Normal newborn – ONH is typically pink, may be
slightly pale with a small physiologic cup.

50. Interpretation of examination findings
 In most cases, after completion of EUA, the findings of
corneal enlargement, optic nerve head changes and
buphthalmos are so typical of PCG that there is little
doubt about the diagnosis and the need for surgery.
 If the IOP is normal and the other findings are present,
one can assume that the IOP is artifactually lowered under
anesthesia, and still secure the diagnosis and proceed with
surgery.
 If ocular enlargement and optic nerve cupping are not
typical or are absent, it is appropriate to postpone the
diagnosis and treatment until a repeat EUA is performed
after 3–4 weeks to confirm any progression.

51. Differential Diagnosis
 Disorders causing red-eye or epiphora
a) Congenital Nasolacrimal duct obstruction
b) Conjunctivitis
c) Corneal epithelial defect/abrasion
d) Keratitis
e) Inflammed anterior segment (uveitis, trauma)
 Conditions showing corneal enlargement
A. Axial myopia
B. Megalocornea

52.  D/d of Corneal edema/opacification
A. Forceps related birth trauma
B. Congenital anomaly
1. Sclerocornea
2. Peter’s anomaly
C. Corneal dystrophy
A. Congenital hereditary endothelial dystrophy
B. Posterior Polymorphous dystrophy
D. Keratitis
A. Herpetic
B. Rubella
E. Storage (metabolic) disorder
A. Mucopolysaccharidosis
B. Mucolipidoses

53.  Conditions with actual or pseudo ONH cupping
A. Physiological
B. Coloboma or pit
C. Atrophic optic nerve

54. Medical management
 Beta-blockers:
 The drug should be used with extreme caution in
neonates due to the possibility of apnea and other
systemic side effects.
 Cardiac abnormalities and bronchial asthma should be
specifically excluded before its use.
 Use of 0.25%, rather than 0.5%, is recommended in
children in order to reduce its side effects;
 The 0.25% formulation is not widely available. Hence,
0.5% timolol can be used with punctal occlusion.

55.  CAIs –
 In addition, growth suppression in children has been
associated with oral acetazolamide therapy, and infants
may experience a severe metabolic acidosis.
 Oral administration of acetazolamide suspension at a
dosage of 10 (range 5–15) mg/kg/day given in divided
doses (three times daily) is safe and well tolerated by
children, lowers IOP and may reduce corneal edema as
a prelude to surgery .
 Topical CAI’s seem to do well in children & in older
children a fixed combination of timolol with
dorzolamide is a good option for use.

56.  Prostaglandin analogues are not studied adequately
in children.
 Only 1/3rd of the children with Glaucoma responded
to latanoprost.
 Alpha agonists: cross the blood brain barrier easily
& result in CNS depression & respiratory depression.
 Hypotension, bradycardia, unresponsiveness,
hypotonia, & hypothermia are seen in children.
 Non recovery from anaesthesia & death have also
been recorded.
 Hence they are a NO

57. Surgical management
1. Goniotomy was once the treatment of choice.
 Otto Barkan (1936) -- using a specially designed glass
contact lens to visualise the angle structures while using a
knife to create an internal cleft in the trabecular tissue called
the "goniotomy"
The objective of goniotomy is to incise the obstructing
tissue that causes the retention of aqueous.

58.  Barraquer knife, Worst knife, Swan spade or even a
long needle can be used as a goniotomy knife
 The tip of the knife is kept in a somewhat superficial
position, cutting at the same depth along the incision.
 As the incision proceeds, a white line develops
behind the blade, the iris falls posteriorly, and the
angle deepens.

59. Trabeculotomy-trabeculectomy
 Combined trabeculotomy–trabeculectomy is safe
and effective in advanced primary developmental
glaucoma with corneal diameter 14 mm or more.
 Mandal et al reported 624 eyes of 360 consecutive
patients who underwent primary combined
trabeculotomy–trabeculectomy for primary
developmental glaucoma between January 1990 and
June 2004.
 They concluded that prolonged IOP control can be
achieved in patients with primary developmental
glaucoma and 42% of the patients gained normal visual
acuity.

60. Management of Refractory Pediatric
Glaucomas
 When the IOP is not controlled after the first surgery, the
surgical options are filtration surgery with anti-fibrosis
drugs, glaucoma drainage implants or cyclodestructive
procedures.
 Trabeculectomy with mitomycin-C as the primary surgery
is not preferred because of the potential complications of
mitomycin-C and also because of the reported higher
success rates of alternative procedures like combined
trabeculotomy–trabeculectomy.
 We may consider filtering surgery with antimetabolites, a
useful option in refractory congenital glaucoma with
previously suboptimal primary surgical results

61. Refractory Glaucomas
 The use of drainage devices & cyclo destructive
procedures may be resorted to, in refractory cases to
bring down the IOP.

62. Management of Residual Vision in
Pediatric Glaucoma
 Visual rehabilitation and low vision aids can help
these children lead a normal or near-normal life.
 telescopes (hand-held or spectacle-mounted)
 hand or pocket magnifiers (2× to 3×)

63. THANK YOU