Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence

Purpose: To describe the ophthalmic findings in the fundus of a Japanese infant with Potter sequence having a mutation in the PAX2 gene. Methods: A 1-month-old infant diagnosed with Potter sequence who had bilateral renal hypoplasia and a mutation in the PAX2 gene was subjected to detailed ophthalmi...

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Bibliographic Details
Main Authors: Mizuki Tagami, Shigeru Honda, Ichiro Morioka, Masafumi Matsuo, Akira Negi
Format: Article
Language:English
Published: Karger Publishers 2010-11-01
Series:Case Reports in Ophthalmology
Subjects:
Online Access:http://www.karger.com/Article/FullText/321625