Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Table 2

Epidemiology and percentage of glaucoma in rare diseases leading to childhood glaucoma.

Primary congenital glaucoma 1 in 10,000 to 68,000
Secondary childhood glaucoma
Disease		Prevalence of disease	Percentage of glaucoma in disease
Mesodermal dysgeneses of neural crest	Iridocorneal trabeculodysgenesis
	(i) Aniridia	From 1/40,000 to 1/100,000	6–75% [16–18, 24]
	(ii) Axenfeld-Rieger’s anomaly (syndrome if systemic associations)	1–9/1000000	50% [13]
	(iii) Peter’s anomaly (syndrome if systemic associations)	1/1000000	Not available
	(iv) Marfan’s syndrome	1/5000	2% [20]
	(v) Weill-Marchesani syndrome	1/100000	80% [21]
	Von Recklinghausen’s syndrome	1/3000	1% [17, 24], 23% of patients with ipsilateral craniofacial anomalies [25]
Phakomatoses	Encephalotrigeminal angiomatosis (Sturge-Weber syndrome and variants such as Klippel-Trenaunay syndrome)	1/50000	50–70% [27] (100% incidence in cases associated with oculodermal melanocytosis [32])
	Oculodermal melanocytosis	14/100000 to 34/100000	10% [29, 32]
	Lowe’s syndrome	1/500000	71% [34]
Metabolic disorders	Homocystinuria	1/344000	85% of cases with ectopia lentis [38, 39, 41, 42]
	Mucopolysaccharidoses	1/25000	2.1% to 12.5% [43, 95]
Mitotic disorders	Juvenile xanthogranuloma	Unknown	10% of patients present ocular anomalies with occasional glaucoma [44]
Other congenital disorders	Trisomy 13 (Patau’s syndrome)	1/6500	Not available
	Persistent hyperplastic primary vitreous	Unknown	31% of patients present ocular abnormalities with occasional glaucoma [46]
	Congenital cataract	1–6/10000	6–26% following cataract surgery [48]
	Rubinstein-Taybi syndrome	Unknown	15% [51]
	Congenital rubella	Unknown	29% [54]