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Article

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations.

Science China. Life sciences - 1 Jul 2017

Bai Dayong, Shi Wei, Qi Zhan, Li Wei, Wei Aihua, Cui Yanhui, Li Cheng, Li Li

Abstract excerpt

Infant nystagmus sydrome presents as involuntary eye movement disorder and can affect seriously ocular function. We performed a retrospective study of clinical data and FRMD7 genetic test results in 12 cases of infantile nystagmus syndrome to correlate waveform, stereopsis, and visual acuity. The patients (age 6.40±2.67 years) had FRMD7 mutations as follows: missense in eight cases, shear in two cases, frameshift...

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Source

Identifiers

PMID: 28623544
DOI: 10.1007/s11427-017-9089-5

Genes

FRMD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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