Answer
Genetic consultation helps to subclassify the diseases and sometimes to predict the prognosis.
Consult with other specialties regarding the existing systemic abnormalities.
Axenfeld-Rieger syndrome: Patients may need workup for associated systemic abnormalities, so referring to a pediatrician or an internist is important.
Phakomatoses have typical ocular findings. Because of their systemic nature, evaluation by the proper specialty is necessary.
For the sporadic type of aniridia, consultation with nephrology is necessary to evaluate the possibility of Wilms tumor.
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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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