Three cases with unusual ophthalmic phenotypes of congenital aniridia.

Abstract

OBJECTIVE:

To report 3 cases with unusual ophthalmic phenotypes of congenital aniridia.

DESIGN:

Interventional case series.

PARTICIPANTS:

A 10-day-old infant with cloudy and large cornea in both eyes, 1 month-old male with bilateral corneal opacity, and 27-year-old male with low vision.

METHODS:

Complete ophthalmic examination and genetic evaluation.

RESULTS:

Case 1 was a neonate with concurrent presentation of congenital aniridia and glaucoma. Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. Case 3 had 2 unusual features of aniridia, which were asymmetric iris involvement and absence of limbal deficiency.

CONCLUSIONS:

It is important to perform thorough ophthalmologic evaluations in patients with congenital aniridia because of the possibilities of coexistence of other ocular abnormalities.

• Authors: Na Young Lee, Yong Eun Lee, Jeewon Mok, Myungshin Kim, Shin Hae Park
• Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (Can J Ophthalmol) Vol. 48 Issue 4 Pg. 340-2 (Aug 2013) ISSN: 1715-3360 [Electronic] England
• PMID: 23931477 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013. Published by Elsevier Inc.

Chemical References

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

Topics

• Abnormalities, Multiple
• Adult
• Aniridia (diagnosis, genetics)
• Anterior Eye Segment (abnormalities)
• Cornea (abnormalities)
• Corneal Opacity (diagnosis)
• Eye Abnormalities (diagnosis)
• Eye Proteins (genetics)
• Female
• Fovea Centralis (abnormalities)
• Glaucoma (congenital, diagnosis)
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Infant, Newborn
• Iris (abnormalities)
• Male
• Mutation
• PAX6 Transcription Factor
• Paired Box Transcription Factors (genetics)
• Phenotype
• Repressor Proteins (genetics)