©2004 Ethis Communications, Inc. All rights reserved. everal thousand years ago, Homo sapiens began to produce sounds to express verbal symbols of concrete and abstract concepts. They were sometimes mesmerized by the rainbow, which must have represented a happy moment: the tempest was over, it was still day, the sun was shining, and some very beautiful colors formed a perfect geometrical arc. What to call it? They used some preexistent name, which eventually was modified to iris. There is speculation about the original root. It may have been auri(aurora or dawn, aureole, aurous [luminous]), orient (where the sun is born), or Horus (Egyptian god of the horizon or rising sun). Or, it may have been hydor(water), or some other preexistent term. Whatever the nomenclature, the meaning of the rainbow was obvious to ancient humans: Some of the anthropomorphic gods had provoked a tempest in a moment of wrath, but finally peace has been restored by the victory of some of the gods or the benevolence of other gods, returning to homo sapiens his precarious and unstable security. The concept of iris radiated an aura of calm, and iris became a root for new terms related to peace, color and beauty: Iris, the young and lovely messenger of the gods. Iris, the beautiful and aromatic fleur-de-lys. Iris, the colored disc placed in the uncolored surface of the human eye. However, just as the bad gods of the tempest sometimes prevailed, depriving the landscape of a rainbow, they sometimes deprived the newborn baby of an iris. The doting mother of that babe gazed fascinated into its eyes and became troubled when she saw something strange—an eye surface without the colored disc. As the child grew, new and more evident manifestations of the wrath of the gods appeared... photophobia, poor vision...maybe complicated with some other ocular and extraocular manifestations. Barratta1 was the first author to describe this congenital anomaly in 1818, when diseases were usually named not because of their pathogenesis (almost always unknown in those times), but because of the most illustrative symptoms and signs. Because the most obvious clinical expression of the anomaly (although usually not the most severe) was the apparent lack of iris, it was called irideremia (irid= iris; eremia = lack), the preferred term in the 19th century, or aniridia (an= negative prefix, irid = iris), as was more frequently used during the 20th century. A genetic tree of four generations of families with aniridia was published by Gutbier2 in 1834, and of three generations by Cunier3 in 1845. Risley (1915)4 reported 221 eyes with aniridia in a genetic tree of 119 persons. More than one-and-a-half centuries later, it was discovered that the first target of the attack in hereditary aniridia was the mutation or deletion within the Pax6 gene on chromosome 11p13 (Ladde 1974,5 Riccardi 19786). Subsequently, some associated conditions were described that initially seemed to be casual coincidences, but eventually some of them were shown to be genetically linked: ectopia lentis,2,4,7,8,9,10 cataract,3,7,8,9,11,12,13 ciliary body hypoplasia,7,8,14 glaucoma,7,8,10,11 macular and optic nerve hypoplasia,9,15 detachment of the retina,8 vitreous body opacities,4, 8 microphthalmos,3,16,17,18 strabismus,9,19 nystagmus,3,9,15,20,21 ...and ocular surface damage. More recently, extraocular associations such as WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation),22,23 Gillespie syndrome (aniridia, cerebelar ataxia and mental retardation),24 and others have been reported.