Axenfeld-Rieger syndrome: more than meets the eye

Axenfeld-Rieger syndrome (ARS) is a rare eye syndrome which has been known for 100 years but remains incompletely understood. Through analysis of 128 individuals with genetically confirmed ARS, we expand the spectrum of clinical features associated with this disorder and identify De Hauwere syndrome as a type of ARS. The two main genetic causes result in distinct conditions with overlapping ocular features: PITX2-related ARS is characterized by ocular, dental, and umbilical anomalies while FOXC1-related ARS has more variable presentation with ocular, hearing, heart, brain, and dental phenotypes being most penetrant. Gene-specific management plans are presented. (By Dr. Elena Semina, https://jmg.bmj.com/content/early/2022/07/25/jmg-2022-108646 )

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