title: Aniridia: a comparative overview.
abstract: OBJECTIVE
  Aniridia is linked to a mutation of the PAX6 gene, which results in panocular anomalies. A set of common secondary pathologies associated with aniridia is recognized. Much of the literature on aniridia focuses on genetic factors of the disorder and associated abnormalities, both ocular and nonocular. The field of research on the prevalence of pathology secondary to ocular abnormalities associated with aniridia is limited, with many of the studies based on low patient numbers. This study contributes patient data on the prevalence and significance of ocular pathology in aniridia.
  
  
  METHODS
  We conducted a retrospective chart review of patients with aniridia treated at the Vanderbilt Eye Institute between July 1, 2011, and July 1, 2012. We compiled data on visual acuities and ocular pathologies, comparing our results with previous studies.
  
  
  RESULTS
  The percentage of patients in our study with nystagmus and cataract was within the range reported among several studies. However, the rate of glaucoma and corneal disease among our adult study patients was higher. Despite being a prominent feature of aniridia, retinal pathology is difficult to quantify; data on retinal pathology is scarce in the literature and difficult to obtain through a retrospective chart review due to the multiple factors impacting the retina in aniridia.
  
  
  CONCLUSIONS
  In addition to the challenges posed by ocular anomalies that occur in anirida, the progressive nature of processes common in the condition have significant implications for long-term visual outcomes.
authors.affiliation: From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 "Retrospective Study of Aniridia." paula.schanilec@gmail.com.
authors.forename: Paula
authors.initials: P
authors.lastname: Schanilec
authors.affiliation: From the Vanderbilt Eye Institute, Nashville, Tennessee. IRB #121857 "Retrospective Study of Aniridia." paula.schanilec@gmail.com.
authors.forename: Ronald
authors.initials: R
authors.lastname: Biernacki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015783:Aniridia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002386:Cataract / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000453:epidemiology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D015995:Prevalence; D012097:Repressor Proteins / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins
keywords: PAX6 gene; aniridia; corneal disease; glaucoma; nystagmus; retina