A case of aniridia with unilateral Peters anomaly.

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.

• Authors: Mayu Sawada, Miho Sato, Akiko Hikoya, Chunxia Wang, Shinsei Minoshima, Noriyuki Azuma, Yoshihiro Hotta
• Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 15 Issue 1 Pg. 104-6 (Feb 2011) ISSN: 1528-3933 [Electronic] United States
• PMID: 21397818 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Chemical References

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

Topics

• Aniridia (complications, diagnostic imaging, genetics)
• Anterior Eye Segment (abnormalities, diagnostic imaging)
• Codon, Nonsense
• Corneal Opacity (complications, diagnostic imaging, genetics)
• Eye Abnormalities (complications, diagnostic imaging, 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