[HTML][HTML] Aniridia
M Hingorani, I Hanson, V Van Heyningen - European Journal of Human …, 2012 - nature.com
M Hingorani, I Hanson, V Van Heyningen
European Journal of Human Genetics, 2012•nature.comAniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the
absence of iris tissue associated with multiple other ocular changes, some present from birth
and some arising progressively over time. Most cases are associated with dominantly
inherited mutations or deletions of the PAX6 gene. This article will review the clinical
manifestations, the molecular basis including genotype–phenotype correlations, diagnostic
approaches and management of aniridia.
absence of iris tissue associated with multiple other ocular changes, some present from birth
and some arising progressively over time. Most cases are associated with dominantly
inherited mutations or deletions of the PAX6 gene. This article will review the clinical
manifestations, the molecular basis including genotype–phenotype correlations, diagnostic
approaches and management of aniridia.
Abstract
Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene. This article will review the clinical manifestations, the molecular basis including genotype–phenotype correlations, diagnostic approaches and management of aniridia.
nature.com