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Riegers' Anomaly Also Known As
What is a Riegers' Anomaly? Riegers' Anomaly is a genetic eye condition present at birth. It is almost always bilateral and is associated with tooth anomalies. Riegers' is a malformation of the anterior segment (the front of the eye between the cornea and the lens) there for the back of the eye, the retina and optic nerve are rarely affected. iridicorneal Malformation - the malformation of the angle between the iris and the cornea prevents the flow of aqueous humour. This causes eye pressure to increase which damages the optic nerve, this damage is called glaucoma. Glaucoma can be present at birth or appear later in life, sometimes after several decades and can result in progressive vision low. Iris stroma Hypoplasia - Stroma is connective tissue, therefore, Iris stroma hypoplasia is the underdevelopment of the iris connective tissue. This causes at the most, partial absence of the iris which makes the iris appear misshapen or dysplaced, or causes many small holes in the iris, this is known a polycoria. Posterior embryotoxon - Appears as a white-gray line at the edge of the cornea and the white of the eye. Cornea Opacities - the cloudy appearance of the cornea which should be clear. This causes visual distortion and photophobia. Why is it confused with aniridia? At birth, the cornea, iris and glaucoma aspects of riegers' and partial or atypical aniridia are very similar. And may not be obvious which condition is present in the individual However, the progression of these two conditions differ considerably and therefore it is important to define which condition is present. This can be done through genetic testing, as Aniridia is only caused by the PAX6 gene on the 11th chromesome, where are Riegers' is associated with chromesomes 4, 6 and 13q14. References Iridogoniodysgenesis, dominant type - Author: Doctor Pascal Dureau | |