The Congenital ((Developmental Glaucomas

Primary congenital (infantile) glaucoma Abnormalities in anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation. At birth or within the first few years of life. Secondary glaucoma in infants Associated with inflammatory, neoplastic hamartomatous, metabolic, or other congenital abnormalities. Primary juvenile glaucoma generally after 3 years of age

Primary congenital glaucoma 50%-70% of the congenital glaucoma 1 in 10,000 births 65% of patients are male Genetics (usually occurs sporadically , AR with incomplete or variable penetrance ) Bilateral in about two-thirds

CLINICAL PRESENTATION

Corneal edema

Clinical Examination Tonometry and intraocular pressure lOP is best measured using topical anesthesia in a cooperative child A complete evaluation of infants requires an examination under anesthesia Most general anesthetic agents and sedatives lower lOP except ketamine Dehydration before GA lower IOP The normal lOP in an infant under anesthesia may range from 10 to 15 mm Hg

Horizontal measurement of corneal diameter Normal:9.5-10.5 mm in full-term newborns increases to the adult diameter 11.5 to 12 mm by 2 years of age. A diameter greater than 12 mm in an infant is highly suggestive of congenital glaucoma.

Gonioscopy

Trabeculodysgenesis Flat anterior iris insertion Concave iris insertion

Ophthalmoscopy The optic nerve head of an infant without glaucoma is pink, with a small physiologic cup Cup-to-disc ratios greater than 0.3 are rare in normal infants and must be considered highly suspicious of glaucoma Asymmetry of optic nerve cupping is also suggestive of glaucoma, particularly differences greater than 0.2 between the two eyes.

Photographic documentation Ultrasonography Cycloplegic refraction and treatment of amblyopia

Differential Diagnosis Excessive tearing

Corneal enlargement X-linked megalocornea Shallow orbits Exophthalmos

Corneal clouding Metabolic disorders Corneal malformations Inflammation Birth trauma Dermoid CHED

Optic nerve abnormalities Pit Coloboma Malformation Hypoplasia

GLAUCOMA ASSOCIATED WITH CONGENITAL ANOMALIES

Aniridia Bilateral ,2/3 AD,1/3 sporadic Foveal hypoplasia Cataract Corneal opacification Glaucoma (late childhood or early adulthood)

Axenfeld-Rieger syndrome Bilateral ,1/2 AD,1/2 sporadic 50% glaucoma

Peters anomaly Bilateral 80% Usually sporadic 50% glaucoma

lens anomalies

Sturge-Weber syndrome

Glaucoma occurs in 30%-70% of children with this syndrome Glaucoma more often occurs when the ipsilateral facial hemangioma The glaucoma that occurs in infancy similar to glaucoma associated with isolated trabeculodysgenesis and responds well to goniotomy. The glaucoma that appears later in life is probably related to elevated episcleral venous pressure from arteriovenous fistulas.

NEUROFIBROMATOSIS (VON RECKLINGHAUSEN'S DISEASE)

Posterior segment abnormalities: PFV ,ROP , FEVR , iris or ciliary body tumors Inflammation Trauma Corticosteroid use Intraocular tumors Congenital rubella Lowe syndrome