2. DEFINITIONS AND
CLASSIFICATIONS
Primary congenital/ infantile glaucoma
 Birth or w/in first few weeks of life
 Abnormalities in the anterior chamber angle
development that obstruct aqueous outflow in the
absence of systemic anomalies or other ocular
malformation
Secondary infantile glaucoma
 Associated with inflammatory, neoplastic,
hamartomatous, metabolic or other congenital
abnormalities

3. DEFINITIONS AND
CLASSIFICATIONS
Primary Juvenile glaucoma
 Recognized early in childhood (after 3 yrs of age) or
early in adulthood
Developmental glaucomas
 Embraces both primary congenital and secondary
glaucoma associated with other developmental
anomalies, either ocular or systemic
 Appear when the onset of elevated IOP occurs before
the age of 3 in primary congenital glaucoma or in
pediatric glaucomas associated with other ocular
and/or systemic abnormalities

4. EPIDEMIOLOGY AND
GENETICS
Heterogenous in the pediatric age group
Primary congenital glaucoma –
 50-70-% of the congenital glaucomas
 Occurs less frequent than primary adult glaucoma
 Rare – 1:10,000 births
Of pediatric glaucoma cases
 60% - diagnosed by the age of 6 mos
 80% within the 1st year of life
 65% approximately are male
 70%- involvement is bilateral

5. EPIDEMIOLOGY AND
GENETICS
 3 major loci of recessively
Some pedigrees suggest inherited primary congenital
autosomal dominant but galucoma
 GLC3A - on chromosome 2
more patient shows (2p21),
recessive pattern with  GLC3B -on chromosome 1
(1p36)
incomplete or variable  GLC3C – on chromosome 14
penetrance and possibly (14q24.3)
multifactorial
0 Genetic counselling- for
inheritance parents of child w/
pediatric glaucoma &
adults w/ childhood onset
glaucoma

6. PATHOPHYSIOLOGY
 2 MAIN GROUPS (THEORIES Exact mechanism of
OF PATHOGENESIS)
 Cellular or membrane
primary congenital
abnormality in trabecular glaucoma remains
meshwork is the primary unproven
pathologic mechanism
 Either anomalous Developmental arrest in
impermeable TM or a the late embryonic
Barkan membrane covering
the trabecular meshwork period suggested
 Anterior Segment anomaly
 Abnormal insertion of
ciliary muscle

7. CLINICAL FEATURES AND
EXAMINATION
PRIMARY CONGENITAL GLAUCOMA
 Presents Classic triad in newborn
Epiphora
Photophobia
Blepharospasm
Diagnosis
 IOP, corneal diameter and axial length, gonioscopy and
ophthalmoscopy
 Optic nerve photography for future follow up

8. CLINICAL FEATURES AND
EXAMINATION
Manifestations:
 Buphthalmos with
corneal enlargement ⦣
12 mm in diameter
during first year of life
 Corneal edema
Mild haze to dense
opacification of corneal
stroma
 Haab striae

9. CLINICAL FEATURES AND
EXAMINATION
Manifestations (Continuation):
 Reduced visual acuity
As a result of:
Optic atrophy
Corneal clouding
Astigmatism
Amblyopia
Cataract
Lens dislocation
Retinal detachment

10. CLINICAL FEATURES AND
EXAMINATION
Manifestations (Continuation):
 Clinicians successfully measure IOP of an infant younger
than 6 mos. while feeding or immediately after (w/o
sedation or anethesia)
 Infants require anesthesia
Several implications of anesthesia
 Lowers IOP – exception is Ketamine which increases IOP
 dehydration- which lowers also IOP
 Normal IOP of infants under anesthesia ranges from 10-
15 mmHg

11. CLINICAL FEATURES AND
EXAMINATION
 Gonioscopy under anesthesia is recommended
 In primary childhood glaucoma
 The anterior chamber is characteristically deep with a
normal appearance to the iris
 High and flat iris insertion
 Absence of angle recess
 Peripheral iris hypoplasia
 Tenting of the peripheral iris pigment epithelium
 Thickened uveal trabecular meshwork

12. CLINICAL FEATURES AND
EXAMINATION
 Corneal edema
 Visualization of the optic disc is part of routine
examination : direct and indirect ophthalmoscopy as
well as photograph of the disc
 The optic nerve head of an infant without glaucoma is
pink with a small physiologic cup
 With glaucoma: enlargement of the cup caused by high
IOP

13. DIFFERENTIAL DIAGNOSIS
 Excessive tearing-  Corneal opacification and
obstruction of the lacrimal
drainage system clouding:
 Enlarged corneas: X-linked  Birth trauma
congenital megalocornea w/o  Dysgeneses (Peter’s anomaly
glaucoma, exophthalmos;
shallow orbits and sclerocornea)
 Tears in Descemet’s  Dystrophies
membrane resulting from  Choristomas
birth trauma – associated
with forceps-assisted  Intrauterine inflammation
deliveries  Inborn errors of metabolism
 Optic nerve abnormalities:  keratomalacia
 Coloboma, hypoplasia, malfor
mation, physiologic cupping  Keratitis

14. LONG-TERM PROGNOSIS
AND FOLLOW-UP
 The initial procedure of
choice is
 goniotomy or
trabeculotomy if the
cornea is clear
 Trabeculotomy ab externo
if the cornea is hazy
 Trabeculectomy or shunt
procedures – for failed
goniotomy and
trabeculotomy
 Cyclophotocoagulation- in
intractable cases

15.  Medical management:
 ⦣-adrenergic antagonists or
carbonic anhydrase
inhibitors (CAI) – may be
used prior to surgery to
control IOP and help clear a
cloudy cornea

16. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
ASSOCIATED OCULAR ANOMALIES
 microphthalmos
 Corneal anomalies (microcornea, megalocornea)
 Anterior segment dysgenesis (Axenfeld-Rieger
syndrome, Peters anomaly, iridoschisis)
 Aniridia
 Lens anomalies (congenital cataracts, lens
dislocation)
 Persistent fetal vasculature (persistent hyperplastic
primary vitreous)
 Congenital ectropion-uvea syndrome

17. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
AXENFELD-RIEGER SYNDROME (A-R)
 Group of bilateral congenital anomalies that may include
abnormal development of the anterior chamber angle, the
iris, and the trabecular meshwork
 50% associated with glaucoma
 Result of abnormal development of tissues derived from
the neural crest
 Combination of Axenfield anomaly, Rieger Anomaly and
Rieger Syndrome
 Typical corneal abnormality - Posterior embryotoxon – a
prominent and anteriorly displaced Schwalbe line

18. Axenfeld-Rieger Syndrome
 Iridocorneal adhesions
to Schwalbe line -
range from threadlike
to broad bands of iris
tissue
 Iris range from normal
to markedly atrophic
with corectopia and
ectropion uveae

19. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
PETER’S ANOMALY
 Condition of central corneal
opacity with adhesions between
the central iris and posterior
cornea
 Lens may be clear or cataractous
 Sporadic, although autosomal
dominat and recessive forms
have been reported
 50% associated with glaucoma
 Annular corneal opacity
(leukoma) in the central visual
axis, with iris strands extending
from collarette to the corneal
opacity
 Leukoma – corresponds to a
central defect in the corneal
endothelium and underlying
Descemet’s membrane

20. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
PETER’S ANOMALY (Continuation)
 Have defects in posterior stroma, descemet’s
membrane and endothelium without extension of
iris strands to the edge of the corneal leukoma
 Lens may be normal in position, w/ or w/o cataract
or the lens may be adherent the posterior layers of
the cornea

21. PETER’S ANOMALY

22. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
ANIRIDIA
 Bilateral condition characterized by a variable iris
hypoplasia that often appears as complete absence of the
iris
 May have limbal stem cell abnormalities that eventually
result in a pannus that begins in the peripheral cornea
and slowly extends centrally
 Cataracts may be present at birth or may develop later in
life
 May also have foveal hypoplasia that leads to reduced
vision
 Mostly familial at transmitted in an autosomal dominant
form

23. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED OCULAR ANOMALIES
ANIRIDIA (continuation)
 20% of sporadic cases are associated with a
chromosomal deletion and an increase risk of Wilms
tumor
 50-75% develop glaucoma
 Glaucoma in aniridia usually develops after
rudimentary iris stump rotates anteriorly to
progressively cover the trabecular meshwork

24. ANIRIDIA

25. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED SYSTEMIC ANOMALIES
ASSOCIATED SYSTEMIC ANOMALIES AND
SYNDROMES
Systemic disorders associated with pediatric glaucoma:
 Sturge-Weber syndrome
 Neurofibromatosis
 Marfan Syndrome
 Weill-Marchesani syndrome

26. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED SYSTEMIC ANOMALIES
STURGE-WEBER SYNDROME/ ENCEPHALOTRIGEMINAL
ANGIOMATOSIS
 A unilateral condition with ipsilateral facial cutaneous
hemangioma, ipsilateral hemangioma of the choroid and
ipsilateral leptomeningeal angioma
 No sex predilection and no inheritance pattern
 Glaucoma occurs at 30%-70% of children with this
syndrome
 Infants with this syndrome – thought to be due to
congenital anterior chamber anomalies
 Glaucoma developing after the first decade of life - result
of elevated episcleral venous pressure causing elevated
IOP

27. STURGE-WEBER SYNDROME/
ENCEPHALOTRIGEMINAL ANGIOMATOSIS

28. GLAUCOMA ASSOCIATED WITH SYSTEMIC
CONGENITAL SYNDROMES, WITH
REPORTED CHROMOSOMAL
ABNORMALITIES
Trisomy 21 (Down Syndrome, Trisomy G syndrome)
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwars syndrome, Trisomy E syndrome)
Turner (XO/XX) syndrome

29. GLAUCOMA ASSOCIATED WITH
SYSTEMIC CONGENITAL DISORDERS
Lowe (Oculocerebrorenal) syndrome
Stickler Syndrome
Zellweger syndrome
Hallermann-Streiff syndrome
Rubinstein-Taybi (broad thumb) syndrome
Oculodentodigital dysplasia
Prader-Will syndrome
Cockayne syndrome
Fetal alcohol syndrome

30. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED SYSTEMIC ANOMALIES
NEUROFIBROMATOSIS
 Most common phakomatosis
 2 forms are recognized
 NF1 (von Recklinghausen disease/ Peripheral
Neurofibromatosis)
 Most commom 1:3000-5000
 Localized to band 11 of the long arm of chromosome 17
 Autosomal dominant about half the time
 Ectropion uveae – common ocular finding
 Ocular Findings: Lisch nodules, optic nerve gliomas, eyelid
neurofibromas and glaucoma
 Systemic Findings: cutaneous café-au-lait spots, cutaneous
nerofibromas, and auxillary or inguinal freckling

31. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED SYSTEMIC ANOMALIES
NEUROFIBROMATOSIS
 NF2 (central neurofibromatosis
 Localized to chromosome 22
 Principal ocular finding: development of posterior
subcapsular cataracts in adolescence or young adulthood
 Not associated with glaucoma
 Defined by the presence of bilateral acoustic neuromas
 Frequently accompanied by multiple other nervous
system tumors

32. DEVELOPMENTAL GLAUCOMAS WITH
ASSOCIATED SYSTEMIC ANOMALIES
OTHER SECONDARY GLAUCOMAS
 Causes in infants are same in adults
 Trauma, inflammation, retinopathy of pre-maturity, lens
associated disorders, corticosteroid use, pigmentary
glaucoma and intraocular tumors
 Intraocular tumors in infants and children:
retinoblastoma, juvenile
xanthogranuloma, medulloepithelioma
 Rubella and congenital cataract are also important
associated conditions
 Emphasis on removal of all residual cortex during
cataract surgery may reduce the occurrence of
pediatric aphakic glaucoma following surgery

33. THANK YOU!