title: Guidelines for genetic study of aniridia.
abstract: BACKGROUND
  Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia is inherited as an autosomal dominant condition and is caused by mutations of the PAX6 gene. A variety of techniques and methodologies within molecular genetics and cytogenetics are used to study these mutations.
  
  
  OBJECTIVE
  To identify the different aspects of this disease and to provide a guide for proper genetic diagnosis leading to improved clinical management of the disease.
  
  
  METHODS
  Aniridia is an autosomal dominant disease that primarily affects the iris, though it can impact most of the ocular structures. The disease is mainly caused by mutations in the PAX6 gene located on chromosome 11p13 which encodes a transcription factor that is involved in the development of the eye. Genetic analysis of aniridia is complex and requires the use of both molecular genetics and cytogenetics techniques. These procedures are indicated in all cases of aniridia. It is important bear certain clinical and technical aspects in mind prior to starting analysis or providing genetic counseling for patients and their families.
  
  
  CONCLUSIONS
  The use of molecular genetic techniques in the genetic diagnosis of aniridia enables patients and their families to receive better clinical management.
authors.affiliation: Servicio de Genética, Instituto de Investigación Sanitaria, Fundación Jiménez Díaz, Madrid, Spain. fblancok@fjd.es
authors.forename: F
authors.initials: F
authors.lastname: Blanco-Kelly
authors.forename: C
authors.initials: C
authors.lastname: Villaverde-Montero
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D003663:Decision Trees; D006801:Humans; D017410:Practice Guidelines as Topic