1. CHILDHOOD GLAUCOMA

2. Definition of Terms
 Primary congenital/ infantile glaucoma-
 present at birth or 1st 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 %- 1st 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  Metabolic disorders
 Inflammatory corneal  Some skin disorders
disease  Choristomas
 CHED  Intrauterine
 Corneal malformations inflammation
 Keratomalacia

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  Rieger anomaly
withmultiple adherent
peripheral iris stands  Defects of teeth bones
 Redundant
Rieger Anomaly periumbilical skin
 Axenfeld anomaly  Pituitary abnormalities
 Iris hypoplasia  hypoplasia
 Corectopia

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 ( 2nd 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!