CONGENITAL GLAUCOMA

DR SIVATEJA CHALLA

DefinitionTerminologyEpidemiologyGeneticsDev of angleClassificationPathogenesisClinical featuresEvaluationManagementPrognosis

DEFINITION Glaucoma associated with developmental anomalies of eye present at birth

Includes

1. Isolated congenital glaucoma

2. Glaucoma's asso with development anomalies either systemic or ocular

WHAT TO LABEL???

A. Isolated congenital glaucomaB. Infantile glaucomaC. Juvenile glaucoma

Isolated congenital glaucoma1. Isolated mal development of the trabecular meshwork

2. No other developmental ocular anomalies or ocular diseases that can raise IOP.

3. Recognized with in first month

Infantile glaucoma

1. Synonymous with congenital glaucoma.

2. 1 month to 3 years

Juvenile glaucoma1. Primary glaucoma occurring later in child hood or early adulthood

2. 3 years to 35 years

Three years of age is generally taken as the division between

infantile and juvenile glaucoma.

After this age the eye no longer expands in response to raised

intraocular pressure.

Juvenile glaucoma doesn’t have corneal enlargement or Haab striae

EPIDEMIOLOGY1. 1 in 10000 births

2. 50% isolated congenital

3. 60% diagnosed by 6 months and 80% by 1 year

4. 65% affected are males

5. 70% bilateral involvement

GENETICS ISOLATED CONGENITAL GLAUCOMAS

1. Most are sporadic

2. 10% familial, usually AR pattern with incomplete or variable penetrance

3. Genes CYP1B1, LTBP2

JUVENILE OPEN-ANGLE GLAUCOMA

4. Autosomal dominant inheritance

5. Genes TIGR and MYOC

DEVELOPMENT OF ANGLE1. At 5 months gestation , continuous layer of endothelium (e) creates a closed cavity of the

anterior chamber and anterior surface of the iris inserts in front of the primordial TM

endothelium ( e )

Trab meshwork

3rd trimester

1. Endothelial progressively disappears from the pupillary area and iris

2. Cavitates over the angle and gets incorporated in the TM

3. The peripheral uveal tissue begins to slide posteriorly to expose TM.

At birth

1. In newborn the iris and ciliary body have recessed to the

level of scleral spur.

2. Posterior sliding of the uveal tissue continues during the

first 6-12 months of life thus forming the adult angle

configuration.

Anterior chamber angle in Congenital Glaucoma

1. Eyes with isolated congenital glaucoma have the appearance of an eye in the 7th or 8th month of gestation

rather than one at full term.

2. Iris and ciliary body have failed to recede posteriorly, and thus the iris insertion and anterior ciliary body

overlap the posterior portion of TM.

Anderson et al: Trans Am Ophthalmol Soc 79 : 458 1981

CLASSIFICATION1. Shaffer-Weiss classification of congenital glaucoma.

2. Hoskins’s anatomic classification of Developmental glaucoma.a) clinically identifiable anatomic defects of the eye were chosen as the basis.

b) identification of the anatomic defect helps in determining appropriate therapy and assessing prognostic factors.

Shaffer-Weiss classification1.Isolated congenital glaucoma (infantile glaucoma) 2.Glaucomas associated with congenital anomalies

1. Aniridia

2. Sturge-Weber syndrome

3. Neurofibromatosis

4. Marfan syndrome

5. Pierre Robin syndrome

6. Homocystinuria

7. Goniodysgenesis

8. Lowe’s syndrome

9. Microcornea

10. Microspherophakia , PHPV

3.Acquired glaucomas in infants

1. Retrolental fibroplasia

2. Tumors- retinoblastoma, juvenile xanthogranuloma

3. Inflammation

4. Trauma

Hoskin’s Anatomic classification

A. Isolated trabeculo dysgenesis

B. Iridotrabeculo dysgenesis

C. Corneotrabeculo dysgenesis

Isolated Trabeculo-dysgenesis

• Most common defect, occurs in two ways

Concave iris insertion1. Plane of Iris insertion normal

2. Anterior iris stroma sweeps over TM

ending short of schwalbe’s line-

probably confused as Barkan’s

membrane?

Flat iris insertion 1. Iris inserts ant to scleral spur /on TM.

2. Obscures view of ciliary body.

3. Surface of TM - stippled / orange peel

appearance.

4. Peripheral anterior iris stroma –thinned.

Central stroma appears normal

Flat iris insertion

Concave iris insertion

Irido-trabeculo-dysgenesisTrabeculodysgenesis with iris maldevelopmentAnterior stromal defects

1. Hypoplasia

2. Hyperplasia

Anomalous iris vessels

1. Persistence of tunica vasculosa lentis

2. Anomalous superficial vessels

Structural anomalies

1. Holes

2. Colobomata

3. Aniridia

Corneo-trabeculo-dysgenesisCorneal defects with trabecular dysgenesis

1.Peripheral lesions (upto 2mm into clear cornea): Posterior Embryotoxon (Axenfeld’s anomaly)

2.Mid peripheral lesions: Rieger’s anomaly (Sector defects….opacities with adherent iris)

3.Central defects: Peter’s anomaly (opacification + central stromal thinning + Zone of clear cornea between opacity and limbus)

PATHOGENESIS Barkan (1955) imperforate membrane, barkan's membrane

no such membrane on histology or electron microscopy

Allen & colleugues faulty cleavage of mesodermal tissue.

Maumeene theory abnormal iris insertion causes obstruction

Andersons theory excessive collagen matrix deposition in T.M,

prevents CB & IRIS to sliding back

Kaiser theory faulty migration or differentiation of neural crest cells

CLINICAL FEATURESClassic Triad ……symptoms1. Epiphora

2. Photophobia

3. Blepharospasm

Other symptoms are

cloudy cornea , red eye, enlarged cornea or eye , irritability , poor vision and painIn older children, astigmatism, progressive axial myopia cause symptomatic decreased VA and refractive amblyopia.

Excessive blinking +/- watering

Hazy corneaLarge corneas

SIGNS

IOP

Corneal oedema Haabs striae

1. Breaks in Descmet’s membrane –as

cornea stretches- acute localized edema

& deposition of new basement

membrane into hyaline ridges.

2. Horizontal, curvilinear and parallel to

the limbus in the peripheral cornea.

Haab’s striae

SIGNS

IOP

buphthalmos Sclera thin and blue

SIGNS

IOP

Flat and subluxated lens iridodonesis

1. Anterior chamber becomes deep

2. Optic nerve cupping◦ Develop early and rapidly

◦ Reversal of cupping with IOP reduction

EVALUATIONExamination in clinic

Observe1. Cornea Size and Clarity

2. degree of tearing/photophobia

3. Any discharge /swelling –sac area

4. Iris/pupil Hypoplasia/corectopia and Aniridia

EVALUATION UNDER GA1. Tonometry ( After Induction And Before Intubation )

2. External Examination

3. Anterior Segment Examination

4. Corneal Diameter Measurement

5. Gonioscopy

6. Fundus Examination

7. CCT

8. Ultrasound (Axial Length Measurement / B Scan )

9. Optic Nerve Photography

10. Refraction

TONOMETRY1. IOP should be measured using Perkin’s hand-held applanation tonometer or

tonopen

2. Most anesthetic agents reduce IOP

3. Should be measured early during earliest possible moments after anesthesia

induction, before intubation.

4. Asymmetric IOP more suggestive of abnormality than B/L borderline IOP

Chloral hydrate is the agent doesn’t have any effect on IOP,so best…..

EXTERNAL EXAMINATION1. Exclude other causes of epiphora, photophobia and blepharospasm

2. Most common cause of epiphora in newborn and infant – congenital NLDO

3. Others ; conjucntivitis (infectious, chemical)

corneal epithelial defect/ abrasion

keratitis

inflammed ant segmant (uveitis, trauma)

CORNEAL DIAMETERAge Normal suspicious

Birth – 6m 9.5 to 11.5 mm > 12

1 – 2 years 10 to 12 mm > 12.5

> 2 years < 12 mm > 13

Markowitz et al Can J Ophthalmol :20; 96 1985

Horizontal diameter from white to white……..The vertical diameter is fallaciously lowered by encroachment of sclera at the superior limbus

Also Document

Corneal edema/ clouding, breaks in Descemet’s membrane (Haab’s striae)

Other causes of corneal clouding

Sclerocornea

Tears in D membrane

Ulcers

Metabolic disease

Peters anomaly

Endothelial dystrophies

Dystrophy e.g congenital hereditary stromal dystrophy

GONIOSCOPYKoeppe (14-16mm) lens provides surgeon with appropriate view of the angle.

In normal newborn1. Iris inserts posterior to scleral spur.

2. TM appears more translucent than that of adult.

In primary congenital glaucoma3. Anterior insertion of iris (flat or concave) directly into TM.

4. Surface of TM has stippled appearance and meshwork may appear thicker

5. Occasionally loops of blood vessels from major arterial circle may be seen

(LOCH NESS monster phenomenon)

FUNDOSCOPY1. C:D ratio >0.3 and asymmetry are suggestive evidence of glaucoma.

2. The infant glaucomatous cup is more often round , steep walled central &

surrounded by uniform pink NRR. Tends to enlarge circumferentially with

progression of glaucoma.

3. Cupping is reversible

MANAGEMENTI. Parent counselling.II. A complete general physical examination by a pediatricianIII. Treatment

Parent counselling1. What is glaucoma ?

2. Need for surgery , multiple surgery.

3. Need for life time follow up

4. Combination of problems◦ IOP◦ Amblyopia management◦ Refractive correction◦ Keratoplasty

5. Counsel regarding choice of profession

Treatment MEDICAL Congenital glaucoma is a surgical disease. Indications 1. reduce IOP temporarily

2. clear cornea to facilitate goniotomy

3. achieve post op IOP control till aquequacy of surgical procedure

4. Cases where surgery poses high risk

DRUGS Topical beta blockers 1st line

S/E bronchospasm, bradycardia, hypotension

2nd line are topical CAI Others Miotics, PGA, Alpha agonists

The a2-adrenergic agonist brimonidine crosses the blood-brain barrier

and therefore has significant effects on the central nervous system

apnea, hypotension, bradycardia, hypotonia, hypothermia, and somnolence

C/I in children younger than 3 years.

SURGICALMultiple surgical interventions are often required.

Goal of surgery◦ Normalize and permanently control IOP off drugs

◦ Clear the cornea

◦ Prevent progression of disc cupping &corneal diameters

◦ Preserve visual field and ocular integrity

◦ To stimulate development of binocular stereoscopic vision

Surgical optionsI. Goniotomy II. TrabeculotomyIII. Trabeculectomy + antimetabolitesIV. Trabeculotomy with trabeculectomy

Goniotomy Clear cornea is prerequisite.

Preoperative gonioscopic evaluation is essential.

Success rate 80 – 90% if performed in 1-12 months age

Requisites barkans lens and knife

Procedure involves entering the AC with sharp goniotomy knife and making an opening incision through the abnormally developed TM

120 DEGRESS can be treated in single sitting

Post op antibiotics, miotics

ADVANTAGES

1. Direct visualisations allows prescice location

2. Less traumatic

3. Safe

4. Rapid

5. Can be repeated

6. Doesn’t injure conjunctiva

7. No bleb related complications

DISADVANTAGES

1. Lens have to be used to visualise angle

2. Not possible in cloudy corneas

3. Require surgical experience

Trabeculotomy Indications Cloudy cornea

After 2 goniotomies

Can be combined with trabeculectomy

Success 73-100% Procedure External incision

Identify schemms canal

Break through TM to increase aqueous flow, 120-140 degrees can be done

ADVANTAGES

1. Can be done in opaque corneas

2. High success rate

3. Lens not required

DISADVANTAGES

1. Angle not visualised directly

2. Schlemms canal not found in 4-20% cases

3. Hypotony may occur

Trabeculectomy1. Lower success rates as compared to adults2. Problems in children with PCG.

◦ Stretched and thinned out limbus.◦ Distorted anatomy.◦ A thick and active tenon capsule.◦ Exuberant scar tissue due to rapid wound healing.◦ Large buphthalmic eye with thin sclera and low scleral rigidity.

Indications Failure of goniotomy and trabeculotomy

Poor success rate

Likely to fail due to low scleral rigidity, scarring

Best results with MMC

advantages

1. Post op IOP titrable

2. Lower pressure achievable

3. May clear cloudy cornea

disadvantages

1. Damage conjunctiva

2. Risk of endoph

3. Intraocular damage due to anti metabolites

4. High risk of scarring

Trabeculotomy with trabeculectomyProvides two major pathways for outflow.

1. Study by Mandal et al in 120 patients.

2. Apart from shallow AC post operatively, no increase in the complications.

3. High success rate –94.4%.

4. Recommend primary trab +trab in all babies presenting with corneal edema at birth.

The best surgical option in the management of PCG and suits the Indian patient population and its social circumstances

Mandal et al Ophthalmolgy 1998 105: 6: 975-82

SURGERY

Clear cornea Corneal haze

goniotomy trabeculotomy

Goniotomy 1 Goniotomy 2

Trabeculotomy 3

Failure of goniotomy or trabeculotomy

trabeculectomy

Glaucoma drainage implant

Cyclodestructive procedures

Goniotomy/Trabeculectomy/Combined Trab-Trab

Surgical outcome?EUA after 3 weeks

IOP controlledEvaluation after 3 months

Normal IOPEvaluation after 3 months

FU every 3 monthsRecord IOP, CDR, VAAxial length, VF (if possible)

IOP not controlledAdd medical therapy

If IOP not controlled repeat Trab-trab

Controlled

VISUALREHABILITATION

uncontrolledVery poor prog.

Consider repeat trab,Drainage implant,Cyclodestruction.

FOLLOW UP

End point • Normalization of IOP • Clearing of cornea • Reversal of optic disc cupping • Stabilization of axial length

PROGNOSISBest results with isolated trabeculodysgenesis

Best when onset is between 1st and 24th month of life

CONCLUSIONSEarly diagnosis and prompt treatment can preserve vision

Responsibility of surgeon does not stop with the surgery.

Visual rehabilitation is equally important as IOP control.

An attempt should be made to familiarize the parents with the protracted course of

the illness.

THANK YOU