A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

Abstract Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestation...

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Bibliographic Details
Main Authors: Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao
Format: Article
Language:English
Published: Nature Publishing Group 2017-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-07730-7