Answer
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.
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Media Gallery
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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.
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