Primary congenital glaucoma is caused by abnormal development of the trabecular meshwork, resulting in impaired aqueous outflow and elevated intraocular pressure. It occurs in children under 2 years old and clinical features include photophobia, corneal edema, corneal enlargement, and optic disc cupping. Diagnosis involves assessing intraocular pressure, eye examination for signs of glaucoma, and refractive error. Treatment involves medications and surgeries to lower intraocular pressure and prevent vision loss.

1. Dr Nidhi Thaker
CHILDHOOD
GLAUCOMA

2. DEFINITION
0CGRN/WGA 2013
0Based on national criteria; Glaucoma in
children less than 18 yrs of age(USA): < 16
yrs of age(UK,Europe)
0Noted by Hippocrates
0First recognised by Von Muralt in 1869

3. CLASSIFICATION OF
CHILDHOOD GLAUCOMA

7. CONGENITAL GLAUCOMA
0Primary congenital glaucoma/ primary infantile
glaucoma/ primary congenital open angle
glaucoma
0Definition:
Glaucoma in children less than 2yrs of age that
can be primary infantile or secondary infantile
associated with ocular or systemic syndromes and
with surgical aphakia.

8. Definition of glaucoma
2 or more required
1) IOP > 21 mm Hg
2) Optic disc cupping:
0 progressive in CDR
0 asymmetry of cup: >0.2
0 focal rim thinning
3) cornea;l findings:
0 Haab striae
0 Increase diameter of cornea
4) Progressive myopia/ myopic shift:
5)Reproducible visual field defect consistant with
glaucomatous optic neuropathy

9. Definition of glaucoma suspect
Atleast 1 required
1) IOP > 21 mm Hg on 2 separate occasions
2) Suspicious optic disc cupping:
0 progressive in CDR
0 asymmetry of cup: >0.2
0 focal rim thinning
3) Increase diameter of cornea and increase axial
length
4) suspicious visual field defect

10. PRIMARY INFANTILE
GLAUCOMA

11. EPIDEMIOLOGY AND GENETICS
Primary congenital glaucoma –
50-70-% of the congenital glaucomas
Occurs less frequent than primary adult glaucoma
Rare – 1:10,000 births
M:F ; 3:2
b/l in 65-80%
Of pediatric glaucoma cases -
20% diagnosed as newborn
60% - diagnosed by the age of 6 months
80% within the 1st year of life

12. EPIDEMIOLOGY AND GENETICS
0 Sporadic 90%
0 Only 10% familial
Autosomal recessive
pattern with
incomplete or variable
penetrance and
possibly multifactorial
inheritance
 3 major loci of recessively
inherited primary
congenital galucoma
 GLC3A - on chromosome 2
(2p21), CYP1B1 gene
 GLC3B -on chromosome 1
(1p36)
 GLC3C – on chromosome 14
(14q24.3) LTBP2 gene
• Genetic counselling- for parents of
child w/ pediatric glaucoma &
adults w/ childhood onset
glaucoma

13. Development of Angle structures
At 5 months' gestation, a continuous layer of
endothelium (e) creates a closed cavity of the
anterior chamber (according to most studies), and
the anterior surface of the iris (i) inserts in front of
the primordial trabecular meshwork (tm).

14. In the 3rd trimester,endothelial layer progressively disappears
from the pupillary membrane (pm) and iris and cavitates over
the anterior chamber angle (aca), possibly becoming
incorporated in the trabecular meshwork. At the same time,
the peripheral uveal tissue begins to slide posteriorly in
relation to the chamber angle structures

15. C: Development of the
trabecular lamellae and
intertrabecular
spacebegins in the inner,
posterior aspect of the
primordial tissue and
progresses toward the
Schlemm canal (Sc) and
Schwalbe line (Sl)
D: The normal anterior
chamber angle is not fully
developed until 1 year of
age.

16. PATHOPHYSIOLOGY
1. Mann: Retention of an abnormal mesodermal
tissue due to imcomplete atrophy
2. Barken : incomplete resorption of mesodermal
cells which forms a membrane across the TM
(barken’s membrane)
3. Allen: incomplete cleavage of mesoderm to form
AC structures
4. Worst: combined theory of atrophy and
resorption

17. 5. Maumenee:
0 abnormal anterior insertion of cilliary
musculature into TM
0 absence of schlemm’s canal in histologic
specimen
6. Anderson :
0Premature or excessive formation of
collagenous beams in TM preventing
posterior sliding of CB and peripheral iris
7. Kupfer at all :
0Faulty migration or differentiation of neural
crest cells

18. summary
0Primary congenital glaucoma is due to failure or
abnormal development of the trabecular meshwork .
0Maldevelopment of trabeculum including the
iridotrabecular junction (trabeculodysgenesis) is
responsible for impaired aqueous outflow resulting in
raised IOP.
0Trabeculodysgenesis is characterized by absence of the
angle recess with iris having a flat or concave direct
insertion into the surface.
0The iris may not completely separate from the cornea
that the angle remains closed by persistent embryonic
tissue.

19. Pathogenesis of Glaucomatous
Ocular Damage
Main Theories are:
1 Mechanical changes due to the rise of
intraocular pressure; and
2 Vascular perfusion of the optic nerve head
3 Defective autoregulation

20. CLINICAL FEATURES
1. Photophobia,blepharospasm,lacrimatio
n:are often occur together.
o caused by irritation of corneal nerves, which
occurs as a result of the elevated IOP.
o Photophobia is usually the initial sign, but is not
enough by itself to arouse suspicion in most cases.
2 others: cloudy cornea , enlarged cornea or eye, red
eye , irritability , poor vision & pain

22. EXTERNAL EXAMINATION
Corneal signs :
Corneal haze is the first sign
Corneal oedema –
Epithelial and stromal edema
Sec to raised IOP
clears with normalization of
the pressure
Severe cases: acute hydrops

24. Corneal enlargement- It occurs along with
enlargement of globe-buphthalmos especially
when the onset is before the age of 3yrs.
0The healthy newborn's cornea has a horizontal
diameter ranging from 9.5 to 10.5 mm, which
enlarges about 0.5 to 1.0 mm in the first year of life
.
0A corneal diameter larger than 12 mm in the first
year of life is a highly suspect finding.

26. 0Tears and break in Descement’s
membrane(Haab’s straie)-These occur
because Descement’s membrane is less
elastic than the corneal stroma.
0Breaks in Descement’s membrane
0Migration of endothelial cells overthere
0Lay down new basement membrane
0Ridges develop along the sepersted edges
0Horizontal straie

28. 3. Sclera becomes thin and appears blue due to
underlying uveal tissue.
4. Anterior Chamber becomes deep.
5. Iris may show iridodonesis and atrophic
patches due to stromal hypoplasia and loss of
crypts
6. Lens becomes flat due to stretching of zonules
and may even subluxate.

30. 7. Optic disc may show variable cupping and
atrophy especially after third year.
8. IOP is raised which is neither marked nor
acute
9. Axial myopia may occur because of
increase in axial length which may give rise
to anisometropic ambylopia.

31. Buphthalmos
• Hydrophthalmia
• enlargement of the eye that may occur with this
condition , these terms should not be used as
synonyms for PCG because enlargement of the globe
is seen with other childhood glaucomas if they occur
early enough in life.

32. Refractive Error
0The enlargement of the globe with elevated IOP in
the first 3 years of life
0 myopic shift anisometropia
amblyopia
0presence of Haab striae often produces significant
astigmatism, which also contributes to amblyopia,
especially in unilateral or asymmetric cases.
0Children between 3 and 10 years of age:
refractive changes have been attributed to
continued scleral stretching .

34. Tonometry
0Perkins applanation tonometer
0Tono-Pen (i.e., a handheld Mackay-Marg-type
tonometer)
0Goldmann applanation tonometry: children as
young as 3 or 4 years of age can often cooperate
0Icare tonometer
0The normal IOP in childhood :10 to 22 mm Hg
0Infants with PCG : 30 to 40 mm Hg with
unanesthetized IOPs
0falsely elevated in a struggling patient and is
often unpredictably altered by systemic sedatives
and anesthetics

36. Fundoscopy
0 Done with anesthetized or
sedated child,using a direct
ophthalmoscope with a Koeppe
gonioscopy lens on the cornea
0 Normally: pink , but slight pallor
physiological cupping
0 In PCG: loss of neuronal tissue in
vertical poles
0 Enlarged scleral canal in
horizontal meridian
0 Cupping is rapid but reversible

37. Above is shown a typical nerve appearance with damage from glaucoma. Note that
the center of the nerve has an excavated or "scooped out" appearance.

38. ULTRASONOGRAPHY
0 documenting progression of
infantile glaucoma by
recording changes in the
axial length
0 axial length may decrease
by as much as 0.8 mm after
surgical reduction of the IOP
0 helpful when glaucoma
drainage-device surgery is
being contemplated
0 After such surgery, helpful in
confirming the presence of
fluid around the device's
reservoir, especially in
patients in whom the bleb
cannot easily be visualized