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Related Experiment Video

Updated: Jul 17, 2026

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
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Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

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Refractive errors in neurofibromatosis type 1 and type 2.

Arsen Akinci1, Golge Acaroglu, Alev Guven

  • 1Department of Pediatric Ophthalmology, Diskapi Children's Hospital, Dikmen Cad Yesilvadi Sok 7/5 Dikmen, 06410 Ankara, Turkey. arsenakinci@yahoo.com

The British Journal of Ophthalmology
|January 5, 2007
PubMed
Summary

Patients with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) show a higher prevalence of myopia compared to controls. This finding suggests myopia may be an additional characteristic of NF1 and NF2.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Neurofibromatosis type 1 (NF1) and type 2 (NF2) are genetic disorders with various clinical manifestations.
  • Refractive errors are common visual impairments, but their prevalence in NF1 and NF2 patients is not well-documented.

Purpose of the Study:

  • To determine the prevalence of refractive errors, specifically myopia, hyperopia, and astigmatism, in patients with NF1 and NF2.
  • To compare the refractive error prevalence in NF1 and NF2 patients with age- and sex-matched control groups.

Main Methods:

  • A prospective observational case-control study involving 82 NF1 patients, 21 NF2 patients, and 103 controls.
  • Cycloplegic autorefraction and dilated fundus examinations were performed to assess refractive errors.
  • Myopia, hyperopia, and astigmatism were defined based on spherical equivalent and cylinder values.

Main Results:

  • The prevalence of myopia was significantly higher in both NF1 (23.1%) and NF2 (23.8%) patients compared to controls (16.5%).
  • Statistical significance of increased myopia prevalence in NF1 and NF2 patients was maintained after adjusting for IQ, education, height, weight, and BMI.
  • Prevalence rates for astigmatism and hyperopia were similar across all groups.

Conclusions:

  • High myopia prevalence appears to be an additional clinical feature associated with neurofibromatosis type 1 and type 2.
  • These findings highlight the importance of regular ophthalmic screening for refractive errors in individuals with NF1 and NF2.