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A six-year-old girl is presented in the clinic with what the family describes as “holes" in the colored part of the eye (iris). You look at the child initially with a light and notice these iris defects as shown in the picture above. You note that the cornea looks clear and of normal size.

1.	What diagnosis would you consider with only this information?
	a -- Axenfeld-Rieger syndrome The most likely diagnosis is Axenfeld-Rieger syndrome with eye signs characterized by: PROMINENT Schwalbe’s line called posterior embryotoxin, multiple iris processes (strands) inserted anterior to Schwalbe’s line, hypoplasia of the iris with pseudopolycoria and corectopia. This condition can be inherited as an autosomal dominant.
2.	What other signs would you look for?
	e -- all of the above All of the alternatives listed can occur in a patient with Axenfeld-Rieger syndrome.
3.	What would you be most interested in following this patient for in the longer term?
	c -- glaucoma Approximately 50% of those affected with this condition have glaucoma that develops, most commonly between the first and third decade of life.