Childhood gaucoma 2

CHILDHOOD GAUCOMA

DR. BYRON Y. LARGADO

DEFINITIONS AND CLASSIFICATIONS

Primary congenital/ infantile glaucomaBirth or w/in first few weeks of lifeAbnormalities in the anterior chamber angle

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

Secondary infantile glaucomaAssociated with inflammatory, neoplastic,

hamartomatous, metabolic or other congenital abnormalities

DEFINITIONS AND CLASSIFICATIONS

Primary Juvenile glaucomaRecognized early in childhood (after 3 yrs of age) or

early in adulthoodDevelopmental glaucomas

Embraces both primary congenital and secondary glaucoma associated with other developmental anomalies, either ocular or systemic

Appear when the onset of elevated IOP occurs before the age of 3 in primary congenital glaucoma or in pediatric glaucomas associated with other ocular and/or systemic abnormalities

EPIDEMIOLOGY AND GENETICS

Heterogenous in the pediatric age groupPrimary congenital glaucoma –

50-70-% of the congenital glaucomasOccurs less frequent than primary adult glaucomaRare – 1:10,000 births

Of pediatric glaucoma cases60% - diagnosed by the age of 6 mos80% within the 1st year of life65% approximately are male70%- involvement is bilateral

EPIDEMIOLOGY AND GENETICS

Some pedigrees suggest autosomal dominant but more patient shows recessive pattern with incomplete or variable penetrance and possibly multifactorial inheritance

3 major loci of recessively inherited primary congenital galucoma GLC3A - on chromosome 2 (2p21), GLC3B -on chromosome 1 (1p36) GLC3C – on chromosome 14

(14q24.3)

0 Genetic counselling- for parents of child w/ pediatric glaucoma & adults w/ childhood onset glaucoma

PATHOPHYSIOLOGY

2 MAIN GROUPS (THEORIES OF PATHOGENESIS) Cellular or membrane

abnormality in trabecular meshwork is the primary pathologic mechanismEither anomalous

impermeable TM or a Barkan membrane covering the trabecular meshwork

Anterior Segment anomaly Abnormal insertion of

ciliary muscle

Exact mechanism of primary congenital glaucoma remains unproven

Developmental arrest in the late embryonic period suggested

CLINICAL FEATURES AND EXAMINATION

PRIMARY CONGENITAL GLAUCOMAPresents Classic triad in newborn

EpiphoraPhotophobiaBlepharospasm

DiagnosisIOP, corneal diameter and axial length, gonioscopy and

ophthalmoscopyOptic nerve photography for future follow up


Manifestations:Buphthalmos with

corneal enlargement ⦣12 mm in diameter during first year of life

Corneal edemaMild haze to dense

opacification of corneal stroma

Haab striae


Manifestations (Continuation):Reduced visual acuity

As a result of:Optic atrophy Corneal cloudingAstigmatismAmblyopiaCataractLens dislocationRetinal detachment


Manifestations (Continuation):Clinicians successfully measure IOP of an infant younger

than 6 mos. while feeding or immediately after (w/o sedation or anethesia)

Infants require anesthesiaSeveral implications of anesthesia

Lowers IOP – exception is Ketamine which increases IOPdehydration- which lowers also IOPNormal IOP of infants under anesthesia ranges from 10-15

mmHg


Gonioscopy under anesthesia is recommended In primary childhood glaucoma

The anterior chamber is characteristically deep with a normal appearance to the iris

High and flat iris insertion Absence of angle recess Peripheral iris hypoplasia Tenting of the peripheral iris pigment epithelium Thickened uveal trabecular meshwork


Corneal edema Visualization of the optic disc is part of routine

examination : direct and indirect ophthalmoscopy as well as photograph of the disc The optic nerve head of an infant without glaucoma is

pink with a small physiologic cup With glaucoma: enlargement of the cup caused by high

IOP

DIFFERENTIAL DIAGNOSIS Excessive tearing- obstruction

of the lacrimal drainage system Enlarged corneas: X-linked

congenital megalocornea w/o glaucoma, exophthalmos; shallow orbits

Tears in Descemet’s membrane resulting from birth trauma – associated with forceps-assisted deliveries

Optic nerve abnormalities: Coloboma, hypoplasia,

malformation, physiologic cupping

Corneal opacification and clouding: Birth trauma Dysgeneses (Peter’s anomaly

and sclerocornea) Dystrophies Choristomas Intrauterine inflammation Inborn errors of metabolism keratomalacia Keratitis

LONG-TERM PROGNOSIS AND FOLLOW-UP

The initial procedure of choice is goniotomy or

trabeculotomy if the cornea is clear

Trabeculotomy ab externo if the cornea is hazy

Trabeculectomy or shunt procedures – for failed goniotomy and trabeculotomy

Cyclophotocoagulation- in intractable cases

Medical management: ᵦ-adrenergic antagonists or

carbonic anhydrase inhibitors (CAI) – may be used prior to surgery to control IOP and help clear a cloudy cornea

DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIES

ASSOCIATED OCULAR ANOMALIES microphthalmos Corneal anomalies (microcornea, megalocornea) Anterior segment dysgenesis (Axenfeld-Rieger

syndrome, Peters anomaly, iridoschisis) Aniridia Lens anomalies (congenital cataracts, lens

dislocation) Persistent fetal vasculature (persistent hyperplastic

primary vitreous) Congenital ectropion-uvea syndrome


AXENFELD-RIEGER SYNDROME (A-R) Group of bilateral congenital anomalies that may include

abnormal development of the anterior chamber angle, the iris, and the trabecular meshwork

50% associated with glaucoma Result of abnormal development of tissues derived from the

neural crest Combination of Axenfield anomaly, Rieger Anomaly and

Rieger Syndrome Typical corneal abnormality - Posterior embryotoxon – a

prominent and anteriorly displaced Schwalbe line

Axenfeld-Rieger Syndrome

Iridocorneal adhesions to Schwalbe line - range from threadlike to broad bands of iris tissue

Iris range from normal to markedly atrophic with corectopia and ectropion uveae


PETER’S ANOMALY Condition of central corneal

opacity with adhesions between the central iris and posterior cornea

Lens may be clear or cataractous Sporadic, although autosomal

dominat and recessive forms have been reported

50% associated with glaucoma Annular corneal opacity (leukoma)

in the central visual axis, with iris strands extending from collarette to the corneal opacity

Leukoma – corresponds to a central defect in the corneal endothelium and underlying Descemet’s membrane


PETER’S ANOMALY (Continuation) Have defects in posterior stroma, descemet’s

membrane and endothelium without extension of iris strands to the edge of the corneal leukoma

Lens may be normal in position, w/ or w/o cataract or the lens may be adherent the posterior layers of the cornea

PETER’S ANOMALY


ANIRIDIA Bilateral condition characterized by a variable iris

hypoplasia that often appears as complete absence of the iris

May have limbal stem cell abnormalities that eventually result in a pannus that begins in the peripheral cornea and slowly extends centrally

Cataracts may be present at birth or may develop later in life May also have foveal hypoplasia that leads to reduced vision Mostly familial at transmitted in an autosomal dominant

form


ANIRIDIA (continuation) 20% of sporadic cases are associated with a

chromosomal deletion and an increase risk of Wilms tumor

50-75% develop glaucoma Glaucoma in aniridia usually develops after

rudimentary iris stump rotates anteriorly to progressively cover the trabecular meshwork

ANIRIDIA

DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIES

ASSOCIATED SYSTEMIC ANOMALIES AND SYNDROMESSystemic disorders associated with pediatric glaucoma: Sturge-Weber syndrome Neurofibromatosis Marfan Syndrome Weill-Marchesani syndrome


STURGE-WEBER SYNDROME/ ENCEPHALOTRIGEMINAL ANGIOMATOSIS A unilateral condition with ipsilateral facial cutaneous

hemangioma, ipsilateral hemangioma of the choroid and ipsilateral leptomeningeal angioma

No sex predilection and no inheritance pattern Glaucoma occurs at 30%-70% of children with this

syndrome Infants with this syndrome – thought to be due to

congenital anterior chamber anomalies Glaucoma developing after the first decade of life - result of

elevated episcleral venous pressure causing elevated IOP

STURGE-WEBER SYNDROME/ ENCEPHALOTRIGEMINAL ANGIOMATOSIS

GLAUCOMA ASSOCIATED WITH SYSTEMIC CONGENITAL SYNDROMES, WITH

REPORTED CHROMOSOMAL ABNORMALITIES

Trisomy 21 (Down Syndrome, Trisomy G syndrome)Trisomy 13 (Patau syndrome)Trisomy 18 (Edwars syndrome, Trisomy E syndrome)Turner (XO/XX) syndrome

GLAUCOMA ASSOCIATED WITH SYSTEMIC CONGENITAL DISORDERS

Lowe (Oculocerebrorenal) syndromeStickler SyndromeZellweger syndromeHallermann-Streiff syndromeRubinstein-Taybi (broad thumb) syndromeOculodentodigital dysplasiaPrader-Will syndromeCockayne syndromeFetal alcohol syndrome


NEUROFIBROMATOSIS Most common phakomatosis 2 forms are recognized

NF1 (von Recklinghausen disease/ Peripheral Neurofibromatosis) Most commom 1:3000-5000 Localized to band 11 of the long arm of chromosome 17 Autosomal dominant about half the time Ectropion uveae – common ocular finding Ocular Findings: Lisch nodules, optic nerve gliomas, eyelid

neurofibromas and glaucoma Systemic Findings: cutaneous café-au-lait spots, cutaneous

nerofibromas, and auxillary or inguinal freckling


NEUROFIBROMATOSIS NF2 (central neurofibromatosis

Localized to chromosome 22 Principal ocular finding: development of posterior

subcapsular cataracts in adolescence or young adulthood Not associated with glaucoma Defined by the presence of bilateral acoustic neuromas Frequently accompanied by multiple other nervous

system tumors


OTHER SECONDARY GLAUCOMAS Causes in infants are same in adults

Trauma, inflammation, retinopathy of pre-maturity, lens associated disorders, corticosteroid use, pigmentary glaucoma and intraocular tumors

Intraocular tumors in infants and children: retinoblastoma, juvenile xanthogranuloma, medulloepithelioma

Rubella and congenital cataract are also important associated conditions

Emphasis on removal of all residual cortex during cataract surgery may reduce the occurrence of pediatric aphakic glaucoma following surgery

THANK YOU!

Health & Medicine

Childhood gaucoma 2