Childhood glaucoma

1. CHILDHOOD GLAUCOMA

2. Definition of Terms
Primary congenital/ infantile glaucoma-
 present at birth or 1
st
few years of life
Anterior chamber angle abnormalities
No systemic anomalies
Juvenile- > 3 y/o
Secondary infantile glaucoma
Associated with inflammatory, neoplastic,
hamartomatous, metabolic or other congenital
abnormalities

3. Epidemiology and Genetics
Primary Congenital Glaucoma
Rare
1- 10,000
50- 70 % of congenital glaucomas
60%- diagnosed by 6 months
80 %- 1
st
year of life
M > F (65 %)
Bilateral > unilateral – ( 70 %)

4. Inheritance:
AD
AR with variable penetrance
GLC3A/B/C
Ch 2, Ch 1, Ch 14
CYP1B1 gene- congenital glaucoma gene at the
GLCA3 locus

5. PATHOPHYSIOLOGY
Exact mechanism- unknown
1. cellular or membranous abnormality in the TM
Impermeable TM or a BARKAN membrane
2. abnormal insertion of the ciliary muscle
Developmental arrest in the late embryonic period

6. CLINICAL FEATURES
Triad:
1.Epiphora
2.Photophobia
3.Blepharospasm
Buphthalmos
Corneal enlargement ( > 12 mm)
Corneal edema
Haab striae

7. Decreased Visual Acuity:
Optic atrophy
Corneal clouding
Astigmatism
Amblyopia
Cataract
Lens dislocation
Retinal detachment

11. Examination under GA
Most GA agents and sedatives lower IOP, except
KETAMINE
Dehydration- lowers IOP
Normal IOP – 10- 15

12. Gonioscopy
High and flat iris insertion
Absence of angle recess
Peripheral iris hypoplasia
Tenting of peripheral iris pigment epithelium
Thickened uveal TM
Open angle

13. OPTIC DISC
Direct and indirect ophthalmoscopy
Optic nerve photography
Glaucomatous cupping:
Superior and inferior
Cup enlargement
Reversible
Indicates control of IOP

14. ULTRASONOGRAPHY
Axial length
Minimally reversible
Corneal enlargement- irreversible

15. DIFFERENTIAL DIAGNOSIS
Excessive tearing
NLDO
Corneal epithelial defect/abrasion
Conjunctivitis

16. Corneal Enlargement
X- linked megalocornea
Exophthalmos
Shallow orbits

17. Corneal Clouding
Birth trauma
Inflammatory corneal
disease
CHED
Corneal malformations
Keratomalacia
Metabolic disorders
Some skin disorders
Choristomas
Intrauterine
inflammation

18. OPTIC NERVE ABNORMALITIES
Optic nerve pit
Optic nerve coloboma
Optic nerve hypoplasia
Optic nerve malformation
Physiologic cupping

19. PROGNOSIS and FOLLOW- UP
Surgery- preferred treatment
Goniotomy
Trabeculotomy
Trabeculectomy, aqueous shunts-
Cyclophotocoagulation

23. MEDICAL
temporizing
Control IOP, clear the cornea
B- blockers
Apnea
Hypotension
Cough
CAI
Acidosis
hypoK
A- adrenergic agonist
CNS adverse effect
Should not be used in patients < 3 y/o
With caution- < 10 y/o

24. Better prognosis- asymptomatic at birth,
symptomatic before 24 months old
Guarded- symptomatic at birth, and diagnosed after
2 y/o
COMPLICATIONS:
Amblyopia, corneal scarring, strabismus,
anisometropia, cataract, lens subluxation, recurrent
glaucoma

25. Secondary Developmental Glaucoma

26. Associated ocular anomalies
Microphthalmos
Corneal anomalies
Anterior segment dysgenesis
Aniridia
Lens anomalies
PFV
Congenital ectropian uvea syndrome

27. Axenfeld- Rieger Syndrome
Abnormal development of tissues derived from the
neural crest
Bilateral
AC angle , iris and TM
AD, sporadic
50% associated wit Glaucoma

28. Axenfeld Anomaly RIEGER SYNDROME
Posterior
emobryotoxon
withmultiple adherent
peripheral iris stands
Rieger Anomaly
Axenfeld anomaly
Iris hypoplasia
Corectopia
Rieger anomaly
Defects of teeth bones
Redundant
periumbilical skin
Pituitary abnormalities
hypoplasia

30. OCULAR FINDINGS
Posterior embryotoxon
Cornea – NORMAL
Iris – normal- atrophic
Corectopia
Hole formation
Ectropion uvea

31. PETERS ANOMALY
Central corneal opacity
Iridocorneal adhesion
Bilateral- 80%
Sporadic- AD, AR
50%- associated with glaucoma

32. Annular- central leukoma
Defect in endothelium, descemet, stroma w/ or w/o
adhering iris strands
+/- corneloneticular adhesions
Microcornea, angle anomalies, systemic
abnormalities ( heart, GUS, MS, ear, palate, spine)

34. ANIRIDIA
Bilateral
Iris hypoplasia- absent iris
Limbal stem cel abnormalities pannus
( peripheral to central)
Cataract
Foveal hypoplasia pendular nystagmus, reduced
vision

36. AD, sporadic
20% of sporadic cases- inc risk of Wilms tumor
PAX6 gene, ch 11
50- 75%- develop glaucoma ( 2
nd
decade of life)
85%- not associated with systemic illness
1.WAGR- 13 %
2.Gillespie- cerebellar ataxia, MR- 2%

37. STURGE WEBER SYNDROME
Ancephalotrigeminal angiomatosis
Unilateral
Ipsilateral cavernous hemangioma/ facial
cutaneous hemangioma/ leptomeningeal angioma
30- 70%- Glaucoma
Elevated episcleral venous presssure
CNS symptoms

38. NEUROFIBROMATOSIS
Most common phakomatosis
I. NF 1- von Recklinghausen or peripheral NF
Most common
1: 3000- 5000
AD, ch 17
Ectropion uvea
Lisch nodules
Optic nerve glioma
Eyelid neurofibroma
Café au lait
Axillary/inguinal freckling
Cutaneous neurofibromas

40. II. NF2
Central NF
Chromosome 22
Posterior subcapsular cataract in adolescence
Not associated with glaucoma
Bilateral acoustic neuroma
Meningioma, schwannoma, ependymoma

41. Weil – Marchesani Syndrome
Short
Short fingers and limbs
Microspherophakia
Lens dislocation  pupillary block glaucoma

42. SYSTEMIC CONGENITAL ANOMALIES
ASSOCIATED WITH CHILDHOOD GLAUCOMA
Trisomy 21
Trisomy 13
Trisomy 18
Turner Syndrome

43. SYSTEMIC CONGENITAL ANOMALIES
ASSOCIATED WITH CHILDHOOD GLAUCOMA
Lowe syndrome
Stickler
Zellweger
Hallermann- Streiff
Rubinstein- Taybi
Oculodentodigital dysplasia
Prader willi
Cockayne Syndrome
Fetal Alcohol Syndrome

44. THANK YOU!