Answer
Aniridia
Most patients present a few months after birth with pupillary abnormalities.
Obtain a full family history, and perform an ocular examination of parents and other relatives. Most cases of aniridia are familial, and it has an autosomal dominant transmission.
Decreased vision, photophobia, nystagmus, and strabismus are the most common clinical manifestations. Because glaucoma develops later in life, enlargement of the cornea is not part of the presentation.
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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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