A Family Study of Aniridia

Arch Ophthalmol. 1961;65(1):81-94. doi:10.1001/archopht.1961.01840020083016.
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Introduction  In June of 1959, the Canadian National Institute for the Blind requested the Blindness Control Division of the Canadian Department of National Health and Welfare to investigate the unusual number of cases of blindness due to aniridia in several families living in a circumscribed rural area in Eastern Canada. The field studies undertaken in response to this request revealed that all of these individuals were members of a single extended kindred. It is the purpose of this paper to describe this kindred, in which, over a period of 5 generations, at least 77 descendants of an aniridic woman born in 1824 have had bilateral aniridia.Reliable information indicates that this female progenitor was herself a familial case of aniridia, one of her parents having been affected. Older informants believe that the defective gene came through her mother and that at least one other maternal relative was blind. Through parish


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