According to the World Glaucoma Association (WGA), pediatric glaucoma comprises all disorders with elevated intraocular pressure (IOP)-related damage to the eye in childhood. Unlike adult glaucoma, this definition is not solely based on optic nerve appearance or visual field defects which can be difficult to ascertain in children. Many classification schemes have been used to organize pediatric glaucomas but consensus in the 2013 WGA meeting organizes pediatric glaucomas as primary or secondary. The primary forms, as previously mentioned, include PCG and JOAG. Secondary forms can be acquired from trauma, uveitis, steroid use, tumor, retinopathy of prematurity, or after cataract surgery. Secondary nonacquired forms can include those associated with systemic conditions such as chromosomal disorders, phakomatoses, or those associated with ocular abnormalities such as Axenfeld-Rieger, aniridia, peters anomaly, and iridotrabecular dysgenesis 14 (Table 1).While the WGA discourages the use of words with inconsistent definitions such as developmental, congenital, or infantile, PCG is frequently broken down by age of presentation to: (1) newborn onset (0 to 1 mo), (2) infantile onset (1 to 24 mo), (3) late onset or late recognized ( > 24 mo), and (4) spontaneously arrested cases. Spontaneously arrested cases are rare but represent cases with normal IOP and optic discs but with other typical signs of PCG that are not progressive. Timing of diagnosis may be different in areas with variable health care access and is influenced by severity of disease. While PCG will commonly present between 3 and 9 months of age, newborn onset is the most severe. 15
Etiology and PathogenesisPCG is most often sporadic, however, there are autosomal recessive cases with penetrance ranging from 40% to 100%. 16 Linkage analysis have thus far identified 5 loci that are involved with the development of PCG: GLC3A (located on chromosome 2p22-p21), GLC3B (1p36.2-p36.1), GLC3C (14q24.3), GLC3D (14q24.2-q24.3, not overlapping with GLC3C), and GLC3E (9p21) (16,18). Genes have been identified with 3 of the 5 loci. The GLC3a loci contains the CYP1B1 gene, the GLC3D locus contains latent transforming growth factor beta binding protein 2 (LTBP2) and the GLC3E loci contains tunica internal endothelial cell kinase gene (TEK/TIE2). 15 CYP1B1 mutations are associated with 15% to 20% of PCG cases in Japan and the United States and LTBP2 mutations have been reported in consanguineous Iranian, Pakistani, and Slovakian Roma families. 4,[17][18][19] Genetic testing can identify a cause in 40% of cases of PCG; in cases of parental consanguinity, it is essential to screen current and future siblings. 4