CASE PRESENTATION

Presenter- Dr. Ajinkya Kulkarni

Moderator- Dr. Rita Dhamankar

Age- 8 yearsSex- FemaleAddress- At post somtane Panvel

Chief complaints First day-06/08/2013

Informant - Mother (LE) Bigger than (RE) since childhood

History of presenting illness Apparently 8 days back she had history of

fall, when she noticed diminution of vision in left eye

No h\o pain , redness, watering.No h\o traumaNo h\o similar complaints in the other eye.

BIRTH HISTORYFull term normal delivery born out of non

consanguineous marriageNo h/o any delayed milestonesNo h/o antenatal maternal infection

• PAST HISTORY

No history of any treatment taken in past.

• FAMILY HISTORY Not significant

GENERAL PHYSICAL EXAMINATION-

Normal

SYSTEMIC EXAMINATION-

Normal

Ocular examinationHead posture- Erect

Facial symmetry- symmetrical

Left eye looks bigger than the right eye.

Anterior Segment

Visual acuityBCVA –

(RE) – 6/6 , N6(LE) – FCCF , PR Inaccurate

Pupil – (RE) RRTL (LE) RAPD Grade 3

Advice – Examination under Anaesthesia

Structure Right eye Left eye

lids Normal Normal

Conjunctiva Normal Normal

Cornea Clear Horizontal – 12 mmVertical – 12 mm

Hazy corneaHorizontal – 16 mmVertical – 15 mm

Anterior chamber Quiet Normal depth , quiet

Anterior segment examination

Anterior segment examinationIris Normal in colour

and patternNormal in colour and pattern

Pupil Round, regular and reacting to light

Fixed , Mid-dilated

Lens Clear Clear

Intraocular pressureOn Perkins tonometer- (RE) – 14 mmhg

(LE) – 40mmhg

OD gonioscopy

OS Gonioscopy

OD Fundus

OS Fundus

FundusOD OS

Glow Present Present

Media Clear Clear

Disc Small Small

cup:disc 0.2:1 0.9:1, Thin nasal rim seenPallor

Macula Foveal reflex present Foveal reflex present

Background Normal Normal

Provisional diagnosis Right eye WNL Left eye Congenital Glaucoma

She was advised - LEFT EYE1. e/d Timolol maleate 0.5% 2 times/day in

left eye2. Tablet Acetazolamide 60 mg 3 times/day for

3 days

She was advised to review after 1 week for IOP evaluation.

On 1 week follow up , IOP was (RE) 14 mmHg &

(LE) 28 mmHg Parents were not keen to opt for surgery in

the Left eye & visual prognosis was poor, hence

She was advised to continue e/d Timolol maleate 0.5 % in left eye

Subsequently patient was followed up with intervals of 2-3 months for IOP evaluation.

Her IOP was well controlled throughout.

CONGENITAL GLAUCOMA

Definition Relating to age of onsetCongenital glaucoma: The glaucoma exists at

birth, and usually before birth.Infantile glaucoma: Occurs from birth until 3

years of life.Juvenile glaucoma: Occurs after the age of 3

to teenage years

Developmental glaucoma: Glaucoma associated with developmental anomalies of the eye present at birth.

Primary developmental glaucoma: Resulting from maldevelopment of the aqueous outflow system.

Secondary developmental glaucoma: Resulting from damage to the aqueous outflow system due to maldevelopment of some other portion of the eye, e.g., angle closure due to pupillary block in a small eye, or an eye with microspherophakia or dislocated lens; or as a forward shift of the lens-iris diaphragm in persistent hyperplastic primary vitreous or retinopathy of prematurity.

Epidemiology & Demographics

Incidence – one in 10-15,000 live birth

75% cases bilateral, 65% are male 75 % present in 1st year of life

Genetics

Most of cases are sporadic.

Transmission pattern is autosomal recessive.

Many cases shows polygenic transmission

Two genetic loci GLC3A, CYP1B1 gene on it and GLC3C , LTBP2 gene on it have been identified

Classification

1. Primary glaucomasA. Congenital open angle glaucomaB. Juvenile glaucomaC. Associated with ocular abnormalitiesD. Associated with systemic abnormalities

A. Chromosomal disordersB. Connective tissue abnormalitiesC. Metabolic diseaseD. Phacomatoses E. Other

2. Secondary glaucomasA. Traumatic glaucomaB. Secondary to intraocular neoplasmC. Secondary to uveitisD. Lens – induced glaucomaE. After surgery for congenital cataract F. Steroid induced glaucomaG. Secondary to rubeosisH. Secondary angle closure glaucomaI. Malignant glaucomaJ. Associated with raised intra ocular pressure

Shaffer-Weiss classification1. Isolated congenital glaucoma (infantile

glaucoma)2. Glaucomas associated with congenital

anomalies1. Aniridia 2. Sturge-Weber syndrome 3. Neurofibromatosis 4. Marfan syndrome 5. Pierre Robin syndrome 6. Homocystinuria 7. Goniodysgenesis 8. Lowe’s syndrome 9. Microspherophakia , PHPV

3. Acquired glaucomas in infants1. Retrolental fibroplasia 2. Tumors- retinoblastoma, juvenile

xanthogranuloma

Hoskin’s anatomical classification1. Goniodysgenesis,2 Trabeculodysgenesis, 3. Irido-dysgenesis and4. Corneodysgenesis

Development of Anterior Chamber angle – Theories

1. Atrophy or resorption (i.e. progressive disappearance of portions of fetal tissue)

2. Cleavage (i.e. separation of to preexisting tissue layers due to differential growth rates)

3. Rarefaction (i.e. mechanical distention due to growth of the anterior ocular segment)

Anderson – at 5months of gestation, anterior surface of iris inserts at the edge of corneal endothelium, covering the cells which will finally form the TM – fetal pectinate ligament

Later the iris and ciliary body recede posteriorly and the iris insertion and ciliary body overlap the posterior portion of the trabecular meshwork.

Theories of abnormal development in congenital glaucoma

Mann (1928)- incomplete atrophy of anterior chamber mesoderm

Barkan(1955) - formation of membrane.Allen et al.(1955)- incomplete cleavage of

mesoderm in angleMaumenee (1959) -abnormal anterior

insertion of the ciliary musculature into TMSmelser and Ozanics(1971) -failure of

rearrangement of angle structures into normal trabecular meshwork

Isolated trabeculodysgenesis is the hallmark of primary developmental glaucoma.

Isolated trabeculodysgenesisFlat iris insertion

Anterior insertion Posterior insertion Mixed insertion

Concave (wrap-around) iris insertion

IridotrabeculodysgenesisAnterior stromal defects

Hypoplasia Hyperplasia

Anomalous iris vessels Persistence of tunica vasculosa lentis Anomalous superficial vessels 

Structural anomalies Holes Colobomata Aniridia

Corneotrabeculodysgenesis

Peripheral, e.g., Axenfeld’s anomalyMidperipheral, e.g., Rieger’s anomalyCentral e.g., Peter’s anomaly, anterior

staphyloma, AC cleavage syndrome, or posterior corneal ulcer of von Hippel

Corneal size, e.g., microcornea or macrocornea

What Happens

Raised IOPRapid

enlargement of eye

Stretching of cornea

Breaks in Descemet’s membrane

Endothelial barrier is disturbed

Corneal oedema and

clouding

Clinical features

Classic Triad of symptoms

1. Epiphora 2. Photophobia3. Blepharospasm

 Sclera – thin ,appears blue due to underlying uveal tissue.

Lens - flat due to stretching of zonules and subluxate.

Optic disc may show variable cupping and atrophy especially after third year which is reversible after IOP control.

Axial myopia may occur because of increase in axial length which may give rise to anisometropic ambylopia.

EUA

1. Refraction - using streak retinoscope2. Corneal findings 3. IOP4. Gonioscopy5. Ophthalmoscopy

Corneal findings

Corneal diameter – distension of globe due to raised IOP→ enlargement of cornea ( especially at corneoscleral junction)

Corneal enlargement from PCG predominantly occurs before the age of 3 years, but the sclera may be deformable until approximately 10 years of age.

Corneal findingsCorneal edema in PCG is initially simple

epithelial edema due to elevated IOPUntreated, the edema progresses to

stromal scarring and irregular corneal astigmatism

Haab’s Striae – These striae are typically horizontal and linear when

they occur centrally in the cornea, but parallel or curvilinear to the limbus when they occur peripherally

IOPThe type of anesthesia and the type of tonometer are

important.Halothane may falsely underestimateKetamine may over estimate IOP.

IOP should be checked immediately after intubation to avoid falsely low recordings

Tonometer

Perkins hand-held applanation tonometer or electronic (Tonopen) tonometer is commonly employed.

The normal IOP in an infant is slightly lower than in an adult, but 21 mm Hg remains a useful upper limit.

Normal IOP by Age

Gonioscopy

The Koeppe 14–16 mm lens with a hand-held slit-lamp or Barkan light and hand-held binocular microscope provides a good view of the angle.

In the normal newborn eye, the iris usually inserts posterior to the scleral spur.

In PCG, the iris commonly inserts anteriorly directly into the trabecular meshwork

This iris insertion is most commonly flat, although a concave insertion may be rarely seen

Vessels in the angle

Although the angle is usually avascular, loops of vessels from the major arterial circle may be seen above the iris (“Loch Ness Monster phenomenon”).

In addition, the peripheral iris may be covered by a fine, fluffy tissue (“Lister’s morning mist”).

Ophthalmoscopy

A direct ophthalmoscope or a Koeppe contact lens can be used for this purpose.

Asymmetry , CDR >0.3Configuration-round, steep walled, central,

tends to enlarge circumferentially and reversible

Normal newborn – ONH is typically pink, may be slightly pale with a small physiologic cup.

Interpretation of examination findingsIn most cases, after completion of EUA, the

findings of corneal enlargement, optic nerve head changes and buphthalmos are so typical of PCG that there is little doubt about the diagnosis and the need for surgery.

If the IOP is normal and the other findings are present, one can assume that the IOP is artifactually lowered under anesthesia, and still secure the diagnosis and proceed with surgery.

If ocular enlargement and optic nerve cupping are not typical or are absent, it is appropriate to postpone the diagnosis and treatment until a repeat EUA is performed after 3–4 weeks to confirm any progression.

Differential DiagnosisDisorders causing red-eye or epiphora

a) Congenital Nasolacrimal duct obstructionb) Conjunctivitisc) Corneal epithelial defect/abrasiond) Keratitise) Inflammed anterior segment (uveitis, trauma)

Conditions showing corneal enlargementA. Axial myopiaB. Megalocornea

D/d of Corneal edema/opacificationA. Forceps related birth traumaB. Congenital anomaly

1. Sclerocornea2. Peter’s anomaly

C. Corneal dystrophyA. Congenital hereditary endothelial dystrophyB. Posterior Polymorphous dystrophy

D. KeratitisA. HerpeticB. Rubella

E. Storage (metabolic) disorderA. MucopolysaccharidosisB. Mucolipidoses

Conditions with actual or pseudo ONH cuppingA. PhysiologicalB. Coloboma or pitC. Atrophic optic nerve

Medical management

Beta-blockers: The drug should be used with extreme caution

in neonates due to the possibility of apnea and other systemic side effects.

Cardiac abnormalities and bronchial asthma should be specifically excluded before its use.

Use of 0.25%, rather than 0.5%, is recommended in children in order to reduce its side effects;

The 0.25% formulation is not widely available. Hence, 0.5% timolol can be used with punctal occlusion.

CAIs –In addition, growth suppression in children has

been associated with oral acetazolamide therapy, and infants may experience a severe metabolic acidosis.

Oral administration of acetazolamide suspension at a dosage of 10 (range 5–15) mg/kg/day given in divided doses (three times daily) is safe and well tolerated by children, lowers IOP and may reduce corneal edema as a prelude to surgery .

Topical CAI’s seem to do well in children & in older children a fixed combination of timolol with dorzolamide is a good option for use.

Prostaglandin analogues are not studied adequately in children.

Only 1/3rd of the children with Glaucoma responded to latanoprost.

Alpha agonists: cross the blood brain barrier easily & result in CNS depression & respiratory depression.

Hypotension, bradycardia, unresponsiveness, hypotonia, & hypothermia are seen in children.

Non recovery from anaesthesia & death have also been recorded.

Hence they are a NO

Surgical management

1. Goniotomy was once the treatment of choice.

Otto Barkan (1936) -- using a specially designed glass contact lens to visualise the angle structures while using a knife to create an internal cleft in the trabecular tissue called the "goniotomy"

The objective of goniotomy is to incise the obstructing tissue that causes the retention of aqueous.

Barraquer knife, Worst knife, Swan spade or even a long needle can be used as a goniotomy knife

The tip of the knife is kept in a somewhat superficial position, cutting at the same depth along the incision.

As the incision proceeds, a white line develops behind the blade, the iris falls posteriorly, and the angle deepens.

Trabeculotomy-trabeculectomy Combined trabeculotomy–

trabeculectomy is safe and effective in advanced primary developmental glaucoma with corneal diameter 14 mm or more.

Mandal et al reported 624 eyes of 360 consecutive patients who underwent primary combined trabeculotomy–trabeculectomy for primary developmental glaucoma between January 1990 and June 2004.

They concluded that prolonged IOP control can be achieved in patients with primary developmental glaucoma and 42% of the patients gained normal visual acuity.

Management of Refractory Pediatric GlaucomasWhen the IOP is not controlled after the first

surgery, the surgical options are filtration surgery with anti-fibrosis drugs, glaucoma drainage implants or cyclodestructive procedures.

Trabeculectomy with mitomycin-C as the primary surgery is not preferred because of the potential complications of mitomycin-C and also because of the reported higher success rates of alternative procedures like combined trabeculotomy–trabeculectomy.

We may consider filtering surgery with antimetabolites, a useful option in refractory congenital glaucoma with previously suboptimal primary surgical results

Refractory GlaucomasThe use of drainage devices & cyclo

destructive procedures may be resorted to, in refractory cases to bring down the IOP.

Management of Residual Vision in Pediatric Glaucoma

Visual rehabilitation and low vision aids can help these children lead a normal or near-normal life.telescopes (hand-held or spectacle-mounted)hand or pocket magnifiers (2× to 3×)

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