Excerpt from Glaucoma, Secondary Congenital
Synonyms, Key Words, and Related Terms: secondary congenital glaucoma, developmental glaucoma, open angle, closed angle, vision loss, visual deficit, congenital ocular anomalies, congenital ocular abnormalities, systemic anomalies
Background: This article discusses developmental glaucomas with associated ocular or systemic anomalies and the most identifiable causes. Aniridia and Peters Anomaly are discussed in other articles.
Glaucoma associated with congenital ocular abnormalities includes the following:
- Aniridia
- Hypoplasia/hyperplasia of iris
- Axenfeld-Rieger syndrome
- Peters anomaly
- Congenital ectropion uvea
- Congenital corneal staphyloma
- Cornea plana
- Iridoschisis
- Megalocornea
- Microcornea
- Microphthalmos
- Morning glory syndrome
- Persistent hyperplastic primary vitreous
- Nanophthalmos
Glaucomas associated with systemic congenital abnormalities include the following:
- Weil-Marchesani syndrome
- Glaucoma in phakomatosis
- Oculocerebrorenal (Lowe) syndrome
- Hallermann-Streiff syndrome
- Cerebrohepatorenal syndrome (Zellweger) syndrome
- Stickler syndrome
- Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome)
- Prader-Willi syndrome
- Cystinosis
- Pierre Robin syndrome
- Rubinstein-Taybi syndrome
- Oculodentodigital dysplasia
- Fetal alcohol syndrome
- Mucopolysaccharidoses
- Waardenburg syndrome
- Cockayne syndrome
- Rubella
- Stickler syndrome
- Basal cell nevus syndrome
- Nevus of Ota
- Klippel-Trenaunay-Weber syndrome
Pathophysiology: The main pathology is malformation of the trabecular meshwork and iris (iridotrabeculodysgenesis) or iridocorneal dysgenesis. Isolated trabeculodysgenesis is the usual finding in primary congenital glaucoma. Frequency:
- In the US: Aniridia is rare, occurring in 1.8 per 100,000 live births; 50% of these patients develop glaucoma. Axenfeld-Rieger syndrome is autosomal dominant and rare; 50% of patients develop glaucoma. The prevalence of neurofibromatosis-1 (NF-1) is 1 in 3000-5000 patients; glaucoma occurs in 1-2% of these patients. Glaucoma occurs in one half of patients with Sturge-Weber syndrome. von Hippel-Lindau occurs in 1 in 22,500 patients.
Mortality/Morbidity:
- Medical treatment usually fails in secondary congenital glaucoma, and surgery is necessary in most cases.
- Associated disorders (eg, corneal opacity, cataract, strabismus) increase the likelihood of amblyopia, unless intervention occurs at an early age.
Race: No racial predilection exists.
Sex:
- No sex predilection exists in aniridia, Axenfeld-Rieger syndrome, Peters anomaly, or phakomatoses.
- Lowe syndrome, one of the causes of secondary congenital glaucoma, has X-linked transmission and appears in males.
Age: Glaucoma usually appears later in childhood or adolescence.
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