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

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Abstract

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 in one case, and non-frameshift in one case. Horizontal jerk waveform was observed in six cases, versus horizontal pendulum in five cases and dual jerk in one case. The uncorrected visual acuity (24 eyes) was 0.21±0.12, compared with a corrected visual acuity (24 eyes) of 0.32±0.14. All patients had simultaneous perception, versus fusion function in 10 cases (83.33%) and stereoscopic vision in seven cases (58.33%) using the synoptophore. Eleven cases (91.67%) detected the stereo fly, compared with five cases (41.67%) for stereoscopic circles and seven cases (58.33%) for stereoscopic animals by Titmus test. Stereoscopic vision using the synoptophore did not correlate with the frequency, amplitude, or intensity of nystagmus or with corrected binocular visual acuity. The infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations. Visual acuity and binocular visual function were significant impaired, and the waveform was generally horizontal jerk. Also, an infrared videonystagmogram can record the frequency, amplitude, and intensity of nystagmus accurately.

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Acknowledgements

This work was supported by the capital special features of the Beijing municipal science and technology commission (Z151100004015072).

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  1. Contributed equally to this work

Authors and Affiliations

  1. Department of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Dayong Bai, Wei Shi, Yanhui Cui, Cheng Li & Li Li

  2. Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, 100045, China

    Zhan Qi & Wei Li

  3. Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China

    Aihua Wei

Authors
  1. Dayong Bai
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  2. Wei Shi
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  3. Zhan Qi
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  4. Wei Li
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  5. Aihua Wei
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  6. Yanhui Cui
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  7. Cheng Li
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  8. Li Li
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Correspondence to Li Li.

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Bai, D., Shi, W., Qi, Z. et al. Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Sci. China Life Sci. 60, 707–713 (2017). https://doi.org/10.1007/s11427-017-9089-5

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  • DOI: https://doi.org/10.1007/s11427-017-9089-5

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