PRIMARY CONGENITAL GLAUCOMASGD B4FACULTY OF MEDICINE UDAYANA UNIVERSITYDENPASAR2015

IntroductionOcular disorders that result in optic nerve damage, often associated with increase intraocular pressureBy the 2020, the prevalence 58,6 million worldwide 3,4 million in United State.GlaucomaPrimarySecondaryCongenitalAbsoluterelatively rare. Primary congenital glaucoma is estimated to affect less than 0,05% of opthalmic patients and 0,05% of children

Definationcharacterized by: elevated intraocular pressure (IOP)enlargement of the globe (buphthalmos), edema, opacification of the cornea with rupture of Descemet's membrane (Haabsstriae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamberand structurally normal posterior segment except for progressive glaucomatous optic atrophy

Etiologyseveral theories membrane covering the anterior chamber angle (Barkan membrane), trabecular meshwork obstruction, developmental arrest of anterior chamber tissue in utero

Cilinical Featuresexcessive tearinglight sensitivity a large loudy cornea ( the normally clear front surface of the eye) which can cause the iris (colored part of the eye) to appear dull

DiagnosisThe exam is almost always done in operating room under general anaesthesia because it can be difficult to examine the eyes of baby or small child. Doctor need : measure the pressure inside the eye, thoroughly examine all parts of the eye.

While under anesthesia the ophthalmologist evaluates :the intraocular pressure (for elevation)cornea diameter (for increased size)cornea clarity (for cloudiness and Haabstriae which are breaks in the back surface of the cornea)axial length (for elongation of the eye- caused by stretching from increased pressure)refractive error (for myopia- also caused by stretching)and the optic nerve (for abnormal cupping which infers optic nerve damage) Such children may also be able to participate in a diagnostic visual field exam evaluate peripheral vision any significant optic nerve damage.

Ultrasonography (USG) B-scan to rule out any posterior segment pathology. For more prolonged examination and surgery, an endotracheal tube is necessary. Laboratory :Hybridization analysis using hybridization of a mutant nucleic acid probe to the CYP1B1 geneDirect mutation analysis by restriction digestSequencing of the CYP1B1 geneHybridization of an allele-specific oligonucleotide with amplified genomic DNAIdentification of the presence of mutant proteins encoded by the CYP1B1 gene

Differential DiagnosisDepends on the major presenting symptom, the differential diagnosis include :Cloudy cornea at birth and edema Obstetric trauma, Intrauterine rubella, Metabolic disorders (mucopolysaccharidoses), Congenital hereditary endothelial dystrophy, Congenital ocular anomalies like sclerocornea or Peters anomalyCorneal enlargement MegalocorneaEpiphora Congenital obstruction of the nasolacrimal ductSecondary infantile glaucoma : trauma, ectopia lentis, uveitis, tumors, retinopathy of prematurity and persistent hyperplastic primary vitreous, corticosteroid related glaucoma

megalocornea

TreatmentSurgery treatment such as :Goniotomy designed to create a route for aqueous drainage through Schlemms canal by incision of the trabecular meshwork under direct visualization Trabeculotomy involves disrupting the tissue between Schlemms canal and the anterior chamber using an ab externo approach to create direct communication

Trabeculectomy section of trabecular meshwork and Schlemms canal is removed under a partial thickness sclera flap to create a wound fistula

Medication To avoid severe metabolic acidosis, topical drops are preferred to systemic suspensions. Medication used such as :Beta-blockers (timolol) extensively and show improvement in intraocular pressure, but may lead to respiratory complications in predisposed young children Parasympathomimetics (pilocarpine)Sympathomimetics :adrenergic agonistalpha-2 adrenergic receptor agonist severe side effects and must be used with caution in infants and children Carbonis anhydrase inhibitors generally safe and well tolerated Prostaglandin agonist showing mostly nonresponders in the Primary Congenital Glaucoma group.

SUMMARYGlaucoma is a group of ocular disorders that result in optic nerve damage, often associated with increase intraocular pressurePrimarycongenitalglaucoma (PCG) is characterized by elevated intraocular pressure (IOP)enlargement of the globe (buphthalmos)edemaopacification of the cornea with rupture of Descemet's membrane (Haabs striae)thinning of the anterior sclera and iris atrophyanomalously deep anterior chamberand structurally normal posterior segment except for progressive glaucomatous optic atrophy

This disease usually is diagnosed at birth or shorthly thereafter, most cases are diagnosed in the first year of life.The etiology of primary congenital glaucoma is unknown but here are several theories. Eye examination is needed to accurately diagnose PCG and determine the proper treatment.The treatment of congenital glaucoma remains a challenge as the surgical options are limited by the short window of intervention available before the disease results in devastating complications.

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