Psychology Roots
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Axenfeld–Rieger Syndrome
an autosomal dominant, developmental spectrum disorder characterized by cornea and iris defects and glaucoma leading to blindness. Other associated developmental defects commonly involve the teeth and facial bones. Researchers have identified three types of Axenfeld–Rieger syndrome according to genetic cause: Type 1 is caused by mutations in the PITX2 gene, and Type 3 is caused by mutations in the FOXC1 gene. The gene that causes Type 2 has not yet been identified, but it is located on chromosome 13. [initially reported in 1920 by Karl Theodor Paul Polykarpus Axenfeld (1867–1930) and in 1935 by Herwigh Rieger (1898–1986), German ophthalmologists]
