CHILDHOOD GLAUCOMA

Definition of TermsPrimary congenital/ infantile glaucoma-

present at birth or 1st few years of lifeAnterior chamber angle abnormalitiesNo systemic anomalies

Juvenile- > 3 y/o

Secondary infantile glaucomaAssociated with inflammatory, neoplastic,

hamartomatous, metabolic or other congenital abnormalities

Epidemiology and GeneticsPrimary Congenital Glaucoma

Rare1- 10,00050- 70 % of congenital glaucomas

60%- diagnosed by 6 months80 %- 1st year of lifeM > F (65 %)Bilateral > unilateral – ( 70 %)

Inheritance:ADAR with variable penetrance

GLC3A/B/CCh 2, Ch 1, Ch 14CYP1B1 gene- congenital glaucoma gene at the

GLCA3 locus

PATHOPHYSIOLOGYExact mechanism- unknown

1. cellular or membranous abnormality in the TMImpermeable TM or a BARKAN membrane

2. abnormal insertion of the ciliary muscle

Developmental arrest in the late embryonic period

CLINICAL FEATURESTriad:

1. Epiphora2. Photophobia3. Blepharospasm

BuphthalmosCorneal enlargement ( > 12 mm)Corneal edemaHaab striae

Decreased Visual Acuity:Optic atrophyCorneal cloudingAstigmatismAmblyopiaCataractLens dislocationRetinal detachment

Examination under GAMost GA agents and sedatives lower IOP, except

KETAMINEDehydration- lowers IOPNormal IOP – 10- 15

GonioscopyHigh and flat iris insertionAbsence of angle recessPeripheral iris hypoplasiaTenting of peripheral iris pigment epitheliumThickened uveal TMOpen angle

OPTIC DISCDirect and indirect ophthalmoscopyOptic nerve photographyGlaucomatous cupping:

Superior and inferiorCup enlargement

ReversibleIndicates control of IOP

ULTRASONOGRAPHYAxial lengthMinimally reversibleCorneal enlargement- irreversible

DIFFERENTIAL DIAGNOSISExcessive tearing

NLDOCorneal epithelial defect/abrasionConjunctivitis

Corneal EnlargementX- linked megalocorneaExophthalmosShallow orbits

Corneal CloudingBirth traumaInflammatory corneal

diseaseCHEDCorneal malformationsKeratomalacia

Metabolic disordersSome skin disordersChoristomasIntrauterine

inflammation

OPTIC NERVE ABNORMALITIESOptic nerve pitOptic nerve colobomaOptic nerve hypoplasiaOptic nerve malformationPhysiologic cupping

PROGNOSIS and FOLLOW- UPSurgery- preferred treatmentGoniotomyTrabeculotomyTrabeculectomy, aqueous shunts- Cyclophotocoagulation

MEDICALtemporizingControl IOP, clear the cornea

B- blockersApneaHypotensionCough

CAIAcidosishypoK

A- adrenergic agonistCNS adverse effectShould not be used in patients < 3 y/oWith caution- < 10 y/o

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

Secondary Developmental Glaucoma

Associated ocular anomaliesMicrophthalmosCorneal anomaliesAnterior segment dysgenesisAniridiaLens anomaliesPFVCongenital ectropian uvea syndrome

Axenfeld- Rieger SyndromeAbnormal development of tissues derived from the

neural crestBilateral AC angle , iris and TMAD, sporadic50% associated wit Glaucoma

Axenfeld Anomaly RIEGER SYNDROMEPosterior

emobryotoxon withmultiple adherent peripheral iris stands

Rieger AnomalyAxenfeld anomalyIris hypoplasiaCorectopia

Rieger anomalyDefects of teeth bonesRedundant

periumbilical skinPituitary

abnormalitieshypoplasia

OCULAR FINDINGSPosterior embryotoxonCornea – NORMALIris – normal- atrophicCorectopiaHole formationEctropion uvea

PETERS ANOMALYCentral corneal opacityIridocorneal adhesionBilateral- 80%Sporadic- AD, AR50%- associated with glaucoma

Annular- central leukomaDefect in endothelium, descemet, stroma w/ or w/o

adhering iris strands+/- corneloneticular adhesionsMicrocornea, angle anomalies, systemic

abnormalities ( heart, GUS, MS, ear, palate, spine)

ANIRIDIABilateralIris hypoplasia- absent irisLimbal stem cel abnormalities pannus ( peripheral to central)CataractFoveal hypoplasia pendular nystagmus, reduced

vision

AD, sporadic20% of sporadic cases- inc risk of Wilms tumorPAX6 gene, ch 1150- 75%- develop glaucoma ( 2nd decade of life)85%- not associated with systemic illness

1.WAGR- 13 % 2.Gillespie- cerebellar ataxia, MR- 2%

STURGE WEBER SYNDROMEAncephalotrigeminal angiomatosisUnilateralIpsilateral cavernous hemangioma/ facial

cutaneous hemangioma/ leptomeningeal angioma30- 70%- GlaucomaElevated episcleral venous presssureCNS symptoms

NEUROFIBROMATOSISMost common phakomatosisI. NF 1- von Recklinghausen or peripheral NF

Most common1: 3000- 5000AD, ch 17

Ectropion uveaLisch nodulesOptic nerve gliomaEyelid neurofibromaCafé au laitAxillary/inguinal frecklingCutaneous neurofibromas

II. NF2Central NFChromosome 22Posterior subcapsular cataract in adolescenceNot associated with glaucomaBilateral acoustic neuromaMeningioma, schwannoma, ependymoma

Weil – Marchesani SyndromeShortShort fingers and limbsMicrospherophakiaLens dislocation pupillary block glaucoma

SYSTEMIC CONGENITAL ANOMALIES ASSOCIATED WITH CHILDHOOD GLAUCOMATrisomy 21Trisomy 13Trisomy 18Turner Syndrome

SYSTEMIC CONGENITAL ANOMALIES ASSOCIATED WITH CHILDHOOD GLAUCOMA

Lowe syndromeSticklerZellwegerHallermann- StreiffRubinstein- Taybi Oculodentodigital dysplasiaPrader williCockayne SyndromeFetal Alcohol Syndrome

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