Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2013
Three cases with unusual ophthalmic phenotypes of congenital aniridia.
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Lee Na Young, Lee Yong Eun, Mok Jeewon, Kim Myungshin, Park Shin Hae
Аннотация
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.
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.