Secondary Congenital Glaucoma Workup

Updated: Jul 27, 2020
  • Author: Inci Irak Dersu, MD, MPH; Chief Editor: Hampton Roy, Sr, MD  more...
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Laboratory Studies

Aniridia: Chromosome analysis and genetic counseling are important parts of the workup.

Axenfeld-Rieger syndrome: Patients may need workup for associated systemic abnormalities.

Many other systemic anomaly – associated glaucoma conditions require appropriate workup including genetic analysis, laboratory studies, and imaging to diagnose and manage the patient's systemic diseases.


Imaging Studies


The most serious complication of neurofibromatosis type 1 (NF-1) is optic nerve and/or chiasm glioma (in 15% of patients).

An MRI of the orbit and brain is needed to screen for the tumor.

Sturge-Weber syndrome

In Sturge-Weber syndrome, calcium deposits located predominantly in the occipital lobe of the brain parenchyma can be detected by a CT scan. These deposits follow the cerebral convolutions and give the appearance of a railroad track.

Angiomatous malformations, decreased cerebral volume, and increased choroidal plexus volume are the other findings of Sturge-Weber syndrome. An MRI can delineate these findings better than a CT scan.


Other Tests

Peters anomaly

B-scan is needed to evaluate intraocular structures that are obstructed by the corneal opacity.

Electrophysiologic tests occasionally are needed to evaluate the visual potential of the eye prior to making decision on intervention.


Pachymetry, A- and B-scan ultrasonography, and ultrasound biomicroscopy (UBM) are useful in helping to establish a diagnosis.

All glaucoma types

Pachymetry readings are important in all types of glaucoma, including childhood glaucoma, to adjust for IOP readings.

In a small study, the mean central corneal thickness of children with different types of childhood glaucoma was measured. According to this study, in 34 children with glaucoma, IOP was overestimated by 3 mm Hg or more in 41.2% of them. In children with Sturge-Weber syndrome, the mean central corneal thickness was 591.9 +/- 23.1 µm, and, in children with aniridia, the mean central corneal thickness was 754.5 +/- 92.6 µm. [7]