Childhood Glaucoma

Definitions and Classification

• Primary congenital or infantile glaucoma – Evident at birth or within the first few years of life– Abnormalities in AC development that obstruct

aqueous outflow in the absence of systemic anomalies or other ocular malformation

• Secondary infantile glaucoma– Associated with inflammatory, neoplastic,

hamartomatous, metabolic, or other congenital abnormalities

Definitions and Classification

• Primary juvenile glaucoma – Recognized later in childhood (after 3 years of

age) or in early adulthood

• Developmental glaucomas– Embraces both primary congenital glaucoma and

secondary glaucoma associated with other developmental anomalies, either ocular or systemic

Childhood Glaucomas

I. Primary GlaucomaA. Congenital open-angle glaucomaB. Juvenile glaucomaC. Primary glaucomas associated with systemic or

ocular abnormalities

Childhood Glaucomas

II. Secondary glaucomaA. Traumatic glaucomaB. Glaucoma secondary to intraocular neoplasmC. Uveitic glaucomaD. Lens-induced glaucomaE. Aphakic glaucoma after congenital cataract surgeryF. Steroid-induced glaucomaG. Neovascular glaucomaH. Secondary angle-closure glaucomaI. Glaucoma with increased episcleral venous pressureJ. Glaucoma secondary to intraocular infection

Clinical Manifestations

• Classic triad: – Epiphora– Photophobia– Blepharospasm

Clinical Manifestations

• Corneal edema– Often the presenting sign in infants < 3 mos– Haab’s striae: curvilinear breaks in the

Descement’s membrane

Clinical Manifestations

• Corneal enlargement– Occurs w/ gradual stretching of the cornea as a

result of ↑ IOP– Appears in slightly older infants up to about age 2-

3 yrs

Corneal Diameter in Children:Normal and Glaucomatous Eyes

Corneal diameter(horizontal, in mm)

Age Normal Suggestive of Glaucoma

Term (newborn) 9.5-10.5 11.5

One year 10-11.5 >12-12.5

Two years 11-12 >12.5

Older child 12 >13

Clinical Manifestations

• Under 1 yr of age of age, diameters of 12-12.5 mm are suggestive of glaucoma, and a measurement of 13 mm or more at any time in childhood suggests abnormality, as does asymmetry in corneal diameter between eyes in a child.

Diagnostic Examination

• Objectives:1. Confirm or exclude the diagnosis of glaucoma2. Determine the etiology of glaucoma (if present)3. Obtain additional medical information needed to

plan for an examination under anesthesia

History

• Information should be gathered regarding possible signs and symptoms of glaucoma, evidence of systemic abnormality, possible trauma, drug and medication exposure, and pertinent family history.

Equipment

• Portable slit lamp• Millimeter ruler• Tono-Pen &/or Perkins

tonometer• Koeppe diagnostic

gonioscopic lenses

Assessment of Vision

• Vision is often poorer in the affected eye in unilateral cases and may be poor in both eyes when glaucoma is bilateral.

• Ability to fix & follow & the presence or absence of nystagmus in infants

• Visual acuity in children > 3 yrs

Corneal Examination

• Edema– In moderately severe cases, the

cornea appears bluish, and allows visualization of the pupil but few iris details.

• Haab’s striae

• Corneal diameter

Tonometry and Intraocular Pressure

• IOP is best measured using topical anesthesia in a cooperative child.

• IOP may be falsely ↑ in a struggling child and unpredictably altered when systemic sedatives and anesthetics are administered. – Oral chloral hydrate sedation (100 mg/kg for the 1st 10 kg,

50 mg/kg for each additional body weight): minimally alters IOP in children

Tonometry and Intraocular Pressure

• IOP in primary congenital glaucoma: 30-40 mmHg, > 20 mmHg under anesthesia

• Mean IOP – newborn infants: 10-12 mmHg– Age 7-8 yrs: 14 mmHg

Anterior Segment Examination

• Primary congenital glaucoma– Abnormally deep & relative peripheral iris stromal

hypoplasia– Iris shows an insertion more anterior than that of

the normal angle– Translucency of the uveal meshwork is altered– Scalloped border of the iris-pigmented epithelium

is unusually prominent

Optic Nerve Examination

• ↑ cup-disc ratio (>0.3)– Stretching of the optic canal and backward

bowing of the lamina cribrosa (reversible)

• Cup-disc asymmetry

Axial Length

• Serial measurement of the axial length to evaluate progression of the disease– Excessive growth in an eye = inadequate IOP

control

Refraction and Perimetry

• Relative myopia of the affected eye

• Older children (6-7 yrs) can undergo visual field examination.

• Younger children: Goldmann visual field testing

• Teenagers: standard automated perimetry programs

Childhood Glaucomas

I. Primary GlaucomaA. Congenital open-angle glaucomaB. Juvenile glaucomaC. Primary glaucomas associated with systemic or

ocular abnormalities

CONGENITAL OPEN-ANGLE GLAUCOMA

Primary Glaucoma

Primary Congenital Open Angle Glaucoma

• Congenital glaucoma or infantile glaucoma• Specific inherited developmental defect of the

trabecular meshwork & anterior chamber angle in w/c the angle appears to be “open” in the sense that the iris & corneoscleral trabecular meshwork are separated

Demographics

• ~50-60% of the congenital glaucomas• 1 in 10,000 births• 60% diagnosed by the age of 6 mos & 80%

w/in the 1st yr of life• 65% male• Bilateral in 70%

Demographics

• Results in blindness in 2-15% of individuals– Amblyopia

• Anisometropia• Strabismic

– Corneal scarring– Myopic astigmatism– Cataracts– Optic nerve damage

Inheritance

• Sporadic in most cases• Autosomal recessive in 10%

Pathophysiology

• Obscure• Cellular or membranous abnormality of the

trabecular meshwork (Barkan membrane)• Developmental arrest of anterior chamber

tissue derived from neural crest cells during the late embryonic period

Clinical Manifestations

• Epiphora, blepharospasm, photophobia during the 1st months of life– often initially confused w/ conjunctivitis or NLDO

Clinical Manifestations

• Signs:– Corneal enlargement– Enlargement of the globe– Corneal clouding– Cupping of the optic disc– Haab’s striae– Deep AC of the affected eye as compared to the usual

shallow infantile AC

Differential DiagnosisI. Conditions sharing signs of epiphora

& “red eye”A. ConjunctivitisB. Congenital NLDOC. Corneal epithelial

defect/abrasionD. Ocular inflammation

(uvietis/trauma)

II. Conditions sharing signs of corneal edema or opacificationA. Corneal dystrophy1. Congenital hereditary endothelial dystrophy

` 2. Posterior polymorphous dystrophyB. Obstetrical trauma w/ Descemet’s tearsC. Storage disease1. Mucopolysaccaharidoses2. CystinosisD. Congenital anomalies1. Sclerocornea2. Peter’s anomalyE. Keratitis1. Maternal rubella keratitis2. Herpetic3. PhlectenularF. Idiopathic (Dx of exclusion only)

Differential DiagnosisIII. Conditions sharing signs of corneal

enlargementA. Axial myopiaB. Megalocornea

IV. Conditions sharing signs of optic nerve cupping (real or apparent)A. Physiologic optic nerve cupping B. Optic nerve colobomaC. Optic atrophyD. Optic nerve hypoplasiaE. Optic nerve malformation

Treatment

• Primary intervention is surgical.– Initial procedure: goniotomy or trabeculectomy– Goniotomy

• Sufficient corneal clarity• Horizontal incision at the midpoint of the superficial

layers of the trabecular meshwork

Treatment

• Trabeculotomy– A partial thickness flap is fashioned, Schlemm

canal is found, & a trabeculotome is inserted into Schlemm canal & then rotated into the AC

Treatment

• Medical treatment– Timolol 0.25% eye drops BID– Acetazolamide 10-15 mg/kg/day q6-8 hrs

Prognosis

• Rate of success is related to the age of the patient at the initial diagnosis & surgery.– At birth, the cure rate is 55%– 3rd or 4th month, the long-term success rate is

almost 100%

JUVENILE GLAUCOMAPrimary Glaucoma

Juvenile Glaucoma

• Age of onset variable (between ages 3 and 20)• Severe high pressure glaucoma significant

damage to the optic nerve little useful vision early in life

• No known associated systemic findings• High incidence of myopia

Juvenile Glaucoma

• No buphthalmos• No breaks in the Descemet’s membrane• Normal appearance of angle structures• No evidence of ↑ pigment deposition in the

angle

• ↑ number of iris processes some of w/c have an anterior insertion crossing the scleral spur & posterior trabecular meshwork (inconsistent)

Treatment

• Surgical– Goniotomy– Trabeculectomy

PRIMARY GLAUCOMA ASSOCIATED WITH OCULAR ABNORMALITIES

Primary Glaucoma

Axenfeld-Rieger Syndrome

• A group of bilateral congenital anomalies that may include abnormal development of the anterior chamber angle, the iris, and the trabecular meshwork

• Autosomal dominant in most cases

• 50% associated w/ glaucoma

Iris atrophy, corectropia, pseudopolycoria

Axenfeld-Rieger Syndrome

• Axenfeld anomaly – posterior embryotoxon with multiple adherent peripheral iris strands

• Rieger anomaly – Axenfeld anomaly plus iris hypoplasia & corectopia

• Rieger syndrome – Rieger anomaly plus developmental defects of the teeth or facial bones, redundant periumbilical skin, pituitary abnormalities, or hypospadias

Axenfeld-Rieger Syndrome

• Posterior embryotoxon (prominent & anteriorly displaced Schwalbe line)

• Iridocorneal adhesions to the Schwalbe line• Iris atrophy: corectopia, hole formation, ectropion

uveae

Peters Anomaly

• Central corneal opacity present at birth that may be associated with variable degrees of iridocorneal adhesion extending from the region of the iris collarette to the border of the opacity

• The lens may be in normal position, w/ or w/o a cataract, or may be adherent to the posterior layers of the cornea.

Peters Anomaly

• 80% bilateral• Usually sporadic• 50% associated w/ glaucoma• 60% associated with systemic malformations

– Heart, GUT system, musculoskeletal system, ear, palate, spine

Aniridia

• Bilateral • Variable iris hypoplasia that

often appears as complete absence of iris– Rudimentary stump to a

complete, or nearly compete, but thin iris

• Limbal stem cell abnormalities, cataract, foveal hypoplasia

Aniridia

• Mostly autosomal dominant• 1/3 sporadic• Mutation of the PAX6 gene on band 13 of

short arm of chromosome 11• 50-75% develop glaucoma

– Rudimentary iris stump rototes anteriorly to progressively cover the trabecular meshwork

Management of Glaucoma in Aniridia

Stage of Aniridia Treatment ConsiderationsNormal IOP, stable exam, no evidence of progressive angle closure

Frequent observation

Normal IOP or early rise in IOP, progressive angle closure

Consider prophylactic goniotomy, medical therapy for ↑ IOP

Glaucoma w/ advanced angle closure

Medical treatment w/ aqueous suppressants & miotics, trabeculectomy w/ adjuvant antimetabolites (mitomycin C)

PRIMARY GLAUCOMA ASSOCIATED WITH SYSTEMIC ABNORMALITIES

Primary Glaucoma

Sturge-Weber Syndrome

• Unilateral condition with ipsilateral facial cutaneous hemangioma, ipsilateral cavernous hemangioma of the choroid, & ipslateral leptomeningeal angioma

Sturge-Weber Syndrome

• Glaucoma in 30-70% of children– Similar to congenital anterior chamber anomalies

(infants)– ↑ episcleral venous pressure (after the 1st decade

of life)

Sturge-Weber Syndrome

• Treatment– Medical therapy (beta-blockers, miotics, CAIs)– Surgical

• Goniotomy• Trabeculectomy w/ mitomycin C

Neurofibromatosis

• NF-1 – multisystem disorder inherited by autosomal dominant transmission w/ its gene on chromosome 17 (17q11.2)

• Café-au-lait spots, optic nerve gliomas, Lisch nodules

Neurofibromatosis

• Glaucoma almost always is associated w/ the development of a plexiform neuroma of the upper eyelid, producing a characteristic “S” curve deformity.

Neurofibromatosis

• Glaucoma:– Obstruction of aqueous outflow by neurofibromatous

tissue in the angle– Developmental angle anomaly

w/c may be associated w/ congenital ectropion uveae

– Secondary angle-closure caused by forward displacement of the peripheral iris associated w/ neurofibromatous thickening of the ciliary body

– Secondary synechial angle closure caused by contraction of a fibrovascular membrane

Neurofibromatosis

• Treatment– Medical (oral CAIs)– Trabeculectomy w/ antimetabolites

Thank you.

SECONDARY GLAUCOMA

Secondary Glaucoma

A. Traumatic glaucomaB. Glaucoma secondary to intraocular neoplasmC. Uveitic glaucomaD. Lens-induced glaucomaE. Aphakic glaucoma after congenital cataract surgeryF. Steroid-induced glaucomaG. Neovascular glaucomaH. Secondary angle-closure glaucomaI. Glaucoma with increased episcleral venous pressureJ. Glaucoma secondary to intraocular infection