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


METHODS
Interventional case series.


METHODS
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.
Na Young
NY
Lee
Yong Eun
YE
Lee
Jeewon
J
Mok
Myungshin
M
Kim
Shin Hae
SH
Park
D000015:Abnormalities, Multiple; D000328:Adult; D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics; D000869:Anterior Eye Segment / Q000002:abnormalities*; D003315:Cornea / Q000002:abnormalities*; D003318:Corneal Opacity / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities*; D005901:Glaucoma / Q000151:congenital* / Q000175:diagnosis; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins