Primary congenital glaucoma is caused by abnormalities in the trabecular meshwork that result in elevated intraocular pressure. It presents in infants younger than 4 years old with symptoms of epiphora, photophobia, and blepharospasm due to corneal edema. On examination, signs include elevated IOP, corneal enlargement with Haab striae, and progressive optic nerve cupping. The main treatment is surgical, with goniotomy or trabeculotomy as first line options, and trabeculectomy or glaucoma drainage devices for refractory cases. Prognosis depends on degree of corneal scarring, anisometropia, amblyopia, and optic nerve

2. PRIMARY CONGENITAL GLAUCOMA
Presenter: Dr Usman Tariq
Registrar Ophthalmology
Armed Forces Institute Of
Ophthalmology - Pakistan

3. To discuss the epidemiology, pathogenesis, clinical features and management of Congenital glaucoma
OBJECTIVE

4. SEQUENCE
• INTRODUCTION
• EPIDEMIOLOGY
• CLINICAL FEATURES
• MANAGEMENT

5. INTRODUCTION

6. 6
INTRODUCTION

7. Primary congenital glaucoma (PCG) is a disease due to
• Genetically-determined abnormalities in the Trabecular Meshwork and
Anterior Chamber angle .
•Resulting in elevated intraocular pressure (IOP)
•Without other ocular or systemic developmental anomalies.
7
INTRODUCTION

8. •Primary Congenital Glaucoma - most common form of primary
childhood glaucoma.
•It is one of two primary childhood glaucomas that presents in children
younger than 4 years of age
•The other primary childhood glaucoma being - Juvenile Open Angle
Glaucoma.
8
INTRODUCTION

9. •SYNDROMIC ASSOCIATIONS – SECONDARY GLAUCOMA:
•Axenfield Rieger Syndrome
•Peters Anamoly
•Persistent Fetal Vasculature
•Oculodermal melanocytosis
•Posterior Polymorphous Dystrophy
•Sturge Weber Syndrome
•Nuerofibromatosis
•Retinopathy of Prematurity
•Glaucoma following Cataract surgery
9
INTRODUCTION

10. •International Classification of Childhood Glaucoma- 2013
There are three variants based on the age of presentation as follows:
•1) Newborn onset (0-1 month)
•2) Infantile onset (>1-24 months)
•3) Late onset or late-recognized (>24 months)
•4) Spontaneously arrested cases (very rare, classic findings of eye
stretching including Haab striae with normal IOP; must follow as
glaucoma suspects nonetheless)
10
INTRODUCTION

11. EPIDEMIOLOGY

12. Gender : Male > Female 3:2
Race : Eastern Europeans > Western Populations
Bilateral : 65 – 80%
Increased Incidence in :
~ Consanguineous Marriages
12
EPIDEMIOLOGY

13. PATHOGENESIS

14. •Most PCG cases are sporadic (with no family history)
• About 10-40% are familial, with an autosomal recessive inheritance
pattern and penetrance varying from 40-100%. Autosomal dominant
inheritance has also been reported.
•Five loci have been identified by linkage analyses: GLC3A (located on
choromosome 2p22-p21), GLC3B (1p36.2-p36.1), GLC3C (14q24.3),
GLC3D (14q24.2-q24.3, not overlapping with GLC3C), and GLC3E
(9p21).
14
ETIOLOGY

15. 15
PATHOGENESIS
Inc accumulation of collagenous
beams in trabecular spaces
Prevent posterior sliding of ciliary body
&peripheral Iris(normally occurs in 3rd trimester
of intrauterine life)
Anterior insertion of Iris Root and Ciliary
Body
Obstructs TM or Narrows or Competely
obstruct Schlem canal
ANDERSON’S HYPOTHESIS

16. CLINICAL FEATURES

17.  SYMPTOMS:
“Clinical Triad" of symptoms including :
• Epiphora
• Photophobia
•Blepharospasm
•.
17
CLINICAL FEATURES

18. • This triad of symptoms is classically associated with PCG due to the
corneal edema that results from the elevated IOP, and causes
irritation.
• Reduced vision can also occur from corneal edema/opacification or
progressive myopia and/or astigmatism. Amblyopia can further worsen
vision. 18
CLINICAL FEATURES

19.  SIGNS :
The main clinical signs of PCG include :
•Elevated IOP >21 mmHg
• Corneal edema and/or
• Enlargement of the eye with buphthalmos
•Haab striae
19
CLINICAL FEATURES

20. 20
CLINICAL FEATURES

21. Other signs related to the eye distension include:
• Abnormally deep anterior chamber
• Myopia (mainly due to elongation and enlargement of the eye)
• Astigmatism (from Haab striae and corneal stretching)
• Anisometropia (almost always present in unilateral PCG)
•Optic Nerve Cupping 21
CLINICAL FEATURES

22. •Optic Nerve Cupping :
• Optic canal stretching and posterior bowing of the lamina cribrosa
without a decrease in the neuroretinal rim.
• When the IOP is normalized, there can be notable reversal of cupping.
•While cupping may resolve, retinal nerve fiber layer damage, if present,
is permanent.
22
CLINICAL FEATURES

23. 23
CLINICAL FEATURES

24. MANAGEMENT

25. The diagnosis is CLINICAL even without an accurate measurement
of IOP.
The hallmark of the disease, however, is an elevated IOP and ocular
stretching in the absence of other ocular and systemic conditions
that can cause glaucoma.
26
DIAGNOSIS

26. HISTORY
•Abnormal appearance of the eyes such as a cloudiness or a blue
tint to the eyes.
• Patient behavior such as eye rubbing or shying away from light.
• While there may be tearing, there is no ocular discharge and
usually no eye redness.
27
DIAGNOSIS

27. 28
CLINICAL FEATURES

28. 29
CLINICAL FEATURES

29. HISTORY
•The patients are otherwise healthy.
• A positive family history is helpful but often is not present since
most cases are sporadic.
30
DIAGNOSIS

30. PHYSICAL EXAMINATION:
1- Vision Assessment
• Asymmetry in unilateral cases
• Presence of nystagmus and/or reduced fixation response in
bilateral cases.
31
DIAGNOSIS

31. PHYSICAL EXAMINATION:
2-Anterior segment exam
• Corneal diameter
• Presence of one or multiple Haab striae.
• Diffuse corneal edema and/or focal corneal edema or
opacification may obscure Haab striae.
32
DIAGNOSIS

32. •AC depth (deep in PCG)
•Structural abnormalities of the cornea, iris, and lens (no frank
abnormalities are seen in PCG, with the exception of mild iris
changes in newborn-onset PCG)
•IOP measurement
33
DIAGNOSIS

33. • Gonioscopy
3-Fundus examination
4-Axial length measurement
5- Cycloplegic Retinoscopy
34
DIAGNOSIS

34. •IOP MEASUREMENT :
• Perkins applanation tonometer
• Tono-pen (a portable Mackay-Marg-type tonometer)
• Icare rebound tonometer.
•In older patients, standard Goldmann applanation tonometry can
be performed.
•A pneumotonometer may be useful to confirm IOP during
examination under anesthesia .
35
DIAGNOSIS

35. CORNEAL DIAMETER:
• Millimeter ruler
• Close-up digital photograph with the ruler in place .
• Under anesthesia, calipers with the tips placed at the limbus 180
degrees apart are used across the widest diameter.
36
DIAGNOSIS

36. GONIOSCOPY :
• More commonly, for initial diagnosis of PCG, gonioscopy is
performed under under anesthesia with a Koeppe or similar direct
gonioscopy lens and portable slit lamp. There are different sized
Koeppe lenses to fit different corneal diameters.
37
DIAGNOSIS

37. •AXIAL LENGTH:
• A-scan ultrasonography
Ideally using the immersion and not contact method, either in
clinic or under anesthesia.
38
DIAGNOSIS

38. OPTIC NERVE HEAD EVALUATION :
• Indirect or direct ophthalmoloscopy
• Fundus photography
• B-scan ultrasonography is recommended if the cornea does not
allow fundus examination to rule out posterior disease. Severe
optic nerve cupping may sometimes be noted on the posterior B-
scan. 39
DIAGNOSIS

39. PACHYMETERY:
• Central corneal thickness
The central cornea may be thicker due to corneal edema, and
may be thinner in PCG patients without corneal edema, likely due
to stretching of the tissues.
40
DIAGNOSIS

40.  Optical Coherence Tomography
• To evaluate the retinal nerve fiber layer and ganglion cell layer.
• It may be helpful especially if the child cannot perform perimetry.
•Anterior segment OCT can be performed to look for anterior
chamber angle structres
41
DIAGNOSIS

41. For EPIPHORA
•Nasolacrimal duct obstruction
• Conjunctivitis
• Corneal abrasion
• Keratitis
•Uveitis
42
DIFFERENTIAL DIAGNOSIS

42. For CORNEAL CLOUDING /OPACIFICATION:
• Birth trauma - Descemet tears that are vertical or oblique (unlike
Haab striae which are usually more horizontal or curvilinear)
• Corneal dystrophies - congenital hereditary endothelial dystrophy
or posterior polymorphous dystrophy
43
DIFFERENTIAL DIAGNOSIS

43. • Congenital or developmental abnormalities : sclerocornea, Peters
anomaly
• Keratitis : intrauterine infection or inflammation such as herpetic
infection, congenital syphilis, and maternal rubella, and Riley-Day
syndrome
• Storage diseases : Inborn errors of metabolism (such as
mucopolysaccharidoses, mucolipidoses.
44
DIFFERENTIAL DIAGNOSIS

44. FOR CORNEAL ENLARGEMENT
• High axial myopia
• Megalocornea is an inherited disorder in which infants have clear
corneas with diameters > 14 mm, deep anterior chambers, and
iridodonesis. There have been reports within one family of
megalocornea coexistent with congenital glaucoma.
45
DIFFERENTIAL DIAGNOSIS

45. FOR OPTIC NERVE CUPPING
• Physiologic cupping
•Optic nerve coloboma
•Optic nerve atrophy
•Optic nerve hypoplasia
• Optic nerve malformation
46
DIFFERENTIAL DIAGNOSIS

46.  Treatment Goal :
• Lowering and controlling the IOP
• Treating the secondary complications : Refractive change and
Amblyopia that develop during the course of the disease.
47
TREATMENT

47. •The mainstay of treatment is SURGERY :
•Angle surgery, either GONIOTOMY or TRABECULOTOMY to lower
IOP by improving aqueous outflow.
•If Angle surgery is not successful TRABECULECTOMY
enhanced with mitomycin
OR
• Glaucoma Implant Surgery with a Molteno, Baerveldt, or Ahmed
implant can be performed.
48
TREATMENT

48. • Refractory cases: Cycloablation
(can be performed using an Nd:YAG laser, diode laser, or cryotherapy, with diode laser being
the most widely used device.)
•Temporizing measure Medical therapy
( prior to surgery and to help decrease corneal clouding to facilitate goniotomy, and to
supplement IOP control after surgery.)
49
TREATMENT

49.  GONIOTOMY :
• Angle surgery is the first procedure of choice to incise/open the
trabecular meshwork with the hope of allowing aqueous flow
from the anterior chamber directly into Schlemm canal.
•It is most successful in infantile-onset PCG, and less so in newborn
or late-recognized PCG.
50
SURGICAL OPTIONS

50.  GONIOTOMY
Goniotomy is preferred when the cornea is clear enough to permit
visualization of anterior segment structures.
51
SURGICAL OPTIONS

51. 52
SURGICAL OPTIONS

52.  TRABECULOTOMY :
When the cornea is not clear enough to permit visualization of
the angle, trabeculotomy ab externo (“trabeculotomy”) is the
procedure of choice.
Access to Schlemm canal is obtained externally via a partial scleral
flap to allow cannulation of Schlemm canal.
53
SURGICAL OPTIONS

53. 56
SURGICAL OPTIONS

54.  COMPLICATIONS :
• Hyphema
•Unintentional filtering blebs
•Choroidal detachment
• Cyclodialysis & iridodialysis
• Lens injury
•Infections
57
SURGICAL OPTIONS

55.  SUCCESS RATE :
• Goniotomy - 30-65%
•Trabeculotomy - 40-80%
with success reported as low as 10% to as high as 94%.
58
SURGICAL OPTIONS

56.  TRABECULECTOMY :
Filtering surgery is considered when one or more angle surgeries
have failed.
•Trabeculectomy with or without MMC
•Glaucoma drainage device implantation
59
SURGICAL OPTIONS

57.  TRABECULECTOMY :
Trabeculectomy may be best done using fornix-based conjunctival
flaps, small radial cuts, MMC under the sclera flap and
subconjunctival tissue with wider spread to enhance posterior
aqueous flow and reduce bleb-related complications.
60
SURGICAL OPTIONS

58.  TRABECULECTOMY :
 Use of an anterior chamber maintainer in all cases and releasable
sutures are also recommended.
61
SURGICAL OPTIONS

59. 62
SURGICAL OPTIONS

60.  SUCCESS RATE :
• 50-85%
with faliure rate 5.6 times higher in age less than 1 yr due to
complications including buphthalmos , lack of scleral rigidity highly
active healing and scarring.
63
SURGICAL OPTIONS

61.  COMPLICATIONS:
• Vitreous loss
• Scleral collapse
•Retinal detachment
•Phthisis
•Bleb leak
• Wound rupture, blebitis, and endophthalmitis.
64
SURGICAL OPTIONS

62.  GLAUCOMA DRAINAGE DEVICES :
• All models of GDDs (Molteno, Baerveldt, and Ahmed valve) can
be used in PCG patients, and GDDs can be implanted safely in
neonates with attention to eye and implant parameters.
65
SURGICAL OPTIONS

63. 66
SURGICAL OPTIONS

64.  COMPLICATIONS:
Those of trabeculectomy plus
• Cornea-tube touch
• Tube erosion through the conjunctiva or cornea
•Implant migration
•Cataract.
•Fibrovascular ingrowth into the valve chamber – Ahmed Valve
68
SURGICAL OPTIONS

65. CYCLODESTRUCTIVE PROCEDURES :
Refractory PCG - to reduce aqueous production .
• Laser cyclophotocoagulation (CPC) has largely replaced
cyclocryotherapy.
• Diode laser is preferred to Nd:YAG laser - decreased adverse
events such as sympathetic ophthalmia.
•Transscleral and endoscopic applications .
69
TREATMENT

66. CYCLODESTRUCTIVE PROCEDURES :
•Transscleral Micropulse-CPC may have less severe complications
than traditional transscleral CPC.
•The limbal anatomy may be distorted and blind application of
transscleral CPC may be better guided with ultrasound
biomicroscopy.
70
TREATMENT

67. 71
SURGICAL OPTIONS

68.  Medical therapy for PCG is typically used as an adjunct to
surgery.
• Timolol - First choice in pediatric glaucoma.
• In cases with insufficient reduction of the intraocular pressure
(IOP), the combination of timolol once a day and dorzolamide
twice a day brings about a good control of the IOP. Both
medications are effective and well tolerated.
73
MEDICAL TREATMENT

69. •The alpha2-agonists have more and potentially serious adverse
effects in children and are contraindicated for children younger
than 2 years of age.
• Latanoprost tends to be less effective in lowering IOP in children
than in adults.
74
MEDICAL TREATMENT

70.  Recommended to look for post op :
•Hypotony
•Inflammation
•Infection
under 2 yrs age – 3 monthly
Over 2 yrs age – 6 monthly
 75
FOLLOW UP

71. Visual Prognosis depends upon :
• Degree of corneal scarring
• Anisometropia
• Refractive Amblyopia
• Optic nerve damage
76
PROGNOSIS

72.  Newborn Onset – Worst
 Infantile Onset – Best (If surgically treated)
 Untreated Cases – Buphthalmos and Blindness
77
PROGNOSIS

73. THANK YOU