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Article

Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations.

Experimental eye research - 1 Aug 2023

Xu Jinling, Chen Yamin, Chen Haoran, Wang Jiahua, Yan Tong, Yu Xudong, Ye Liang, Xu Meiping, Xu Suzhong, Yu Huanyun, Deng Ruzhi, Zheng Yihan, Yang Yeqin, Chen Qiang, Yu Xinping, Liu Yong, Liang Yuanbo, Gu Feng

Abstract excerpt

The visual function of patients with infantile nystagmus (IN) can be significantly decreased owing to constant eye movement. While, reaching a definitive diagnosis becomes a challenge due to genetic heterozygous of this disease. To address it, we investigated whether best-corrected visual acuity (BCVA) results can facilitate the molecular diagnosis of IN patients harboring FRMD7 mutations. 200 patients with IN...

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Identifiers

PMID: 37423457
DOI: 10.1016/j.exer.2023.109567

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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