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:
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Aniridia
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Hypoplasia/hyperplasia of iris
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Axenfeld-Rieger syndrome
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Peters anomaly
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Congenital ectropion uvea
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Congenital corneal staphyloma
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Cornea plana
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Iridoschisis
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Microcornea
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Microphthalmos
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Morning glory syndrome
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Persistent hyperplastic primary vitreous
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Nanophthalmos
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Posterior polymorphous dystrophy
Glaucomas associated with systemic congenital abnormalities include the following:
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Weil-Marchesani syndrome
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Glaucoma in phakomatosis
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Hallermann-Streiff syndrome
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Cerebrohepatorenal syndrome (Zellweger) syndrome
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Stickler syndrome
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Trisomy syndromes (Down syndrome, trisomy D, Edwards syndrome)
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Cystinosis
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Pierre Robin syndrome
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Oculodentodigital dysplasia
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Mucopolysaccharidoses
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Waardenburg syndrome
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Stickler syndrome
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Basal cell nevus syndrome
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Nevus of Ota
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Walker-Walburg syndrome
Pathophysiology
The main pathology is malformation of the trabecular meshwork and iris (iridotrabeculodysgenesis) or iridocorneal dysgenesis. Numerous iris processes and iridocorneal adhesions could be seen in these diseases. Neovascular glaucoma has been reported in Stickler syndrome. Isolated trabeculodysgenesis is the usual finding in primary congenital glaucoma.
Epidemiology
Frequency
United States
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. [1] Glaucoma occurs in 15% of patients with posterior polymorphous dystrophy. The prevalence of neurofibromatosis-1 (NF-1) is 1 in 3000-5000 people; glaucoma occurs in 1-2% of these patients. Glaucoma occurs in one half of patients with Sturge-Weber syndrome. [2] von Hippel-Lindau occurs in 1 in 22,500 people.
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 can appear at any age depending on the underlying condition. For instance, in Peters anomaly, glaucoma is usually present at birth; on the other hand, in Axenfeld-Rieger syndrome, glaucoma may not occur until young adulthood.
Prognosis
Prognosis in secondary congenital glaucoma is guarded.
Earlier age at onset of glaucoma usually is more difficult to manage. Patients need multiple procedures, each of which has its own risks.
Associated ocular problems (eg, strabismus, cataract, microphthalmia, amblyopia) also worsen the prognosis.
In the study by Kargi et al, visual function was evaluated retrospectively with an average follow-up of 11.6 years in 204 eyes of 126 patients who had childhood glaucoma including congenital glaucoma and secondary glaucoma with or without syndrome association. [3] They found that decreased final visual acuity (less than 20/40 is considered as decreased vision) is strongly correlated with amblyopia and optic nerve damage. Anisometric or strabismic amblyopia was seen, but deprivation amblyopia was the most common type in syndrome-associated glaucoma. Cornea- and lens-associated problems were more common on syndrome-associated glaucoma; therefore, their final visual acuity was worse than other groups at the end of the follow-up period.
In a series by Yang et al of 34 eyes of 19 children with Peters anomaly, IOP control with or without antiglaucoma medicine was achieved in 11 eyes (32%) after 1 or more surgical procedures. [4] The visual outcome was poor due to glaucomatous optic neuropathy, amblyopia, and other associated anomalies.
Agarwal et al studied 18 eyes of patients with Sturge-Weber syndrome who underwent the combined trabeculotomy-trabeculectomy procedure. The follow-up (mean, 42 mo) results are as follows: IOP was controlled in 11 eyes (61.1%), and visual acuity was better than 6/60 (20/200) in 8 patients. [5]
Patients with Lowe syndrome have a poor life expectancy.
Patient Education
For excellent patient education resources, visit eMedicineHealth's Eye and Vision Center. Also, see eMedicineHealth's patient education articles Glaucoma Overview, Glaucoma FAQs, and Glaucoma Medications.
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Axenfeld-Rieger syndrome with iris atrophy, corectopia, and pseudopolycoria.
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Female patient with plexiform neurofibroma (NF-1). Upper right eyelid involvement, associated with ipsilateral buphthalmos. In Image A (left), patient is aged 8 months; in Image B (right), patient is aged 8 years.
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Female infant with Sturge-Weber syndrome. Facial port-wine nevus involves the left eyelid, associated with ipsilateral buphthalmos.
