A case of aniridia with unilateral Peters anomaly

J AAPOS. 2011 Feb;15(1):104-6. doi: 10.1016/j.jaapos.2010.11.006.

Abstract

Aniridia is an autosomal-dominant, panocular, congenital anomaly transmitted with high penetrance and largely caused by mutations in the PAX6 gene. Although Peters anomaly may also be caused by mutations in PAX6, there has not to our knowledge been a report of aniridia associated with lens displacement into the anterior chamber and lenticular-corneal attachment. We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation.

Publication types

  • Case Reports

MeSH terms

  • Aniridia / complications*
  • Aniridia / diagnostic imaging
  • Aniridia / genetics
  • Anterior Eye Segment / abnormalities
  • Anterior Eye Segment / diagnostic imaging
  • Codon, Nonsense
  • Corneal Opacity / complications
  • Corneal Opacity / diagnostic imaging
  • Corneal Opacity / genetics
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / genetics
  • Eye Proteins / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Infant, Newborn
  • Male
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Polymerase Chain Reaction
  • Repressor Proteins / genetics
  • Ultrasonography

Substances

  • Codon, Nonsense
  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins

Supplementary concepts

  • Peters anomaly