Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family.
A two-month-old girl with aniridia was found to have an optic pit in one eye and the morning glory disc anomaly in the other eye. The patient's mother had corectopia and atypical iris defects. The findings are described and the embryology of the various abnormalities briefly reviewed. This is the first report of such an association of findings in a family with aniridia. Failure of normal neuroectodermal development may play a role in the development of optic pits and the morning glory disc anomaly.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D009898:Optic Disk / Q000002:abnormalities*