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aniridia type 2
Pathology:
- absence of the iris
- absence of the fovea
- malformations of the lens & anterior chamber
Genetics:
- associated with defects in PAX6
- 1/3 of cases are sporadic, & 2/3 are familial, with
- autosomal dominant inheritance
- high penetrance
Complications:
- severe age-related corneal degeneration is a frequent complication
- 1/3 of sporadic AN patients develop Wilms tumor in association with genitourinary anomalies & mental retardation (WAGR syndrome) as a consequence of heterozygous (sub)microscopic deletions of chromosome 11p13
General
aniridia
Database Correlations
OMIM 106210
References
- UniProt :accession P26367
- OMIM :accession 106210