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A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.

Investigative ophthalmology & visual science - 1 Aug 2017

Wang Baojiang, Liu Yongli, Chen Shiguo, Wu Yunmiao, Lin Sheng, Duan Yongheng, Zheng Kaifeng, Zhang Linghua, Gu Xueying, Hong Wenxu, Shao Hao, Zeng Xuchun, Sun Bi, Duan Shan

Abstract excerpt

Purpose: Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. However, the exact pathogenesis of pathologic myopia remains unclear. In this study, we screened a Han Chinese family with pathologic myopia to identify the causative mutation and...

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Source

Identifiers

PMID: 28837730
DOI: 10.1167/iovs.16-20941

Genes

NDUFAF7

Variants

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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