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The abnormal iris and pupil seen here are features of Rieger syndrome, a genetic disorder usually occurring bilaterally and characterized by hypoplasia of the iris stroma with pseudopolycoria (the appearance of multiple pupils). Other features may include posterior embryotoxon and early onset glaucoma. The disorder is an anterior segment dysgenesis caused by mutations in the PITX2 and FOXC1 genes.
This 12-year-old patient also has high myopia. She has a brother with Peters anomaly, a different form of anterior segment dysgenesis typified by adhesions between the iris and the posterior cornea. The patient’s mother also has Rieger syndrome, along with high myopia and severe glaucoma.
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