A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE

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Abstract
A pedigree is reported showing 4 persons with coloboma and/or hypoplasia of the iris, 10 with partial or complete bilateral aniridia, 12 with bilateral aniridia and ectopia lentis, 1 with partial aniridia of the right eye and coloboma of the left, and 4 who were stated to have aniridia but were not seen personally by the writer. These different abnormalities follow no special pattern of distribution but fulfil the conditions of a regular Mendelian dominant, the trait becoming apparent in a heterozygote. There were no associated mental or physical defects. Aniridia is a disability of germinal origin, but doubt exists whether it is a mesodermal or ectodermal germ-layer failure. Support for the mesodermal theory is given by the 3 cases showing defects of the iris stroma with intact pigment layers. The ectodermal theory is supported by the 7 cases showing associated ectodermal defects, e.g., nystagmus, absence of fovea centralis, and, in view of the fact that the rim of the optic cup is regarded as the evocator of the lens, by the 12 cases of ectopia lentis. Lenticular opacities are very common in cases of aniridia, and are probably the result of impaired nutrition of the lens. The presence of a constantly moving iris may be the stimulus for intraocular fluid exchange.

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