Aniridia. A review

• Published in: Survey of Ophthalmology Vol. 28; no. 6; pp. 621 - 642
• Main Authors: Nelson, Leonard B., Spaeth, George L., Nowinski, Thaddeus S., Margo, Curtis E., Jackson, Laird
• Format: Book Review Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.01.1984; Elsevier Science
• Subjects: aniridia; Biological and medical sciences; Cataract - genetics; Chromosome Aberrations - genetics; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Diagnosis, Differential; Ectopia Lentis - genetics; Genes, Dominant; glaucoma; Glaucoma - genetics; heredity; Humans; Iris - abnormalities; Iris - embryology; Iris - pathology; Kidney Neoplasms - genetics; Malformations of the eye; Medical sciences; Ophthalmology; Phenotype; Syndrome; Wilms Tumor - genetics; Wilms' tumor; heredity; Wilms' tumor; aniridia; glaucoma; chromosome deletion; Human; Glaucoma; Pathology; Pediatrics; Eye disease; Malformation; Aniridia; Inheritance; Etiopathogenesis; Wilms tumor; Review
• ISSN: 0039-6257; 1879-3304
• DOI: 10.1016/0039-6257(84)90184-X

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.