Aniridia. A review.
Aniridia occurs as a phenotypically heterogeneous condition which may be inherited as an autosomal dominant disorder or as part of several systemic syndromes. It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. Aniridia may occur in a highly penetrant form in association with other ocular abnormalities with poor vision or in a more variable form with good vision. The recognition of a child with sporadic aniridia should alert physicians to the increased risk of development of Wilms' tumor.
D002386:Cataract / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000235:genetics; D005799:Genes, Dominant; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D007680:Kidney Neoplasms / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics