DNA diagnosis in a family with autosomal dominant aniridia

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Abstract
A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media. Because of the high variability in expression of aniridia, even within fam, a diagnosis of aniridia could not be excluded. However linkage analysis using tightly linkeu chromosome 11 p13 markers flanking the aniridia locus (catalase, Dl 1S151, and Dl 1S325) made it highly unlikely that this patient inherited the aniridia gene from his affected mother.

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