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Article

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

Scientific reports - 10 Aug 2017

Wang Decai, Pan Xinyuan, Ji Jiangdong, Gu Shun, Sun Xiantao, Jiang Chao, Xia Weiyi, Qiu Zhihua, Kang Xiaoli, Ding Sijia, Liu Qinghuai, Chen Xue, Lu Fang, Zhao Chen

Abstract excerpt

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 manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great...

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Identifiers

PMID: 28798362
DOI: 10.1038/s41598-017-07730-7
PMCID: PMC5552876

Genes

PAX2
PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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