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Abstract #54549 Published in IGR 15-3
Three cases with unusual ophthalmic phenotypes of congenital aniridia
Lee NY; Lee YE; Mok J; Kim M; Park SHCanadian Journal of Ophthalmology 2013; 48: 340-342
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.
Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
