Three cases with unusual ophthalmic phenotypes of congenital aniridia

Na Young Lee, Yong Eun Lee, Jeewon Mok, Myungshin Kim, Shin Hae Park

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish
Pages (from-to)340-342
Number of pages3
JournalCanadian Journal of Ophthalmology
Volume48
Issue number4
DOIs
StatePublished - Aug 2013

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