Aniridia.
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.
Ophthalmology, Hinchingbrooke Hospital, Cambridgeshire, UK.
Melanie
M
Hingorani
Isabel
I
Hanson
Veronica
V
van Heyningen
D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D005136:Eye Proteins / Q000235:genetics; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics; D025721:WT1 Proteins / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D025721:WT1 Proteins