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Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients

  • Vanessa WaisbergEmail author
  • Luiz Oswaldo Carneiro Rodrigues
  • Márcio Bittar Nehemy
  • Luciana Bastos-Rodrigues
  • Débora Marques de Miranda
Genetics

Abstract

Purpose

To evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed.

Methods

Eye examination was performed in eight NF2 patients, and it included the measurement of the visual acuity, biomicroscopy, dilated fundus examination, color fundus photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis was performed with whole-exome sequencing using DNA derived from peripheral blood mononuclear cells from each individual.

Results

Ophthalmological features were present in all patients, ranging from subtle retinal alterations identified only using SD-OCT to severe ocular damage present at birth. Six mutations were observed: two patients with stop codon mutation as shown on table 1 and result section, three patients with frameshift mutation as shown on table 1 and result section. Three novel mutations were found among them.

Conclusions

It is a descriptive study of a rare disease, with poor previous literature. Clinical and genetic data are shown, reviving the need to further studies to clarify the genotype-phenotype correlations in NF2.

Keywords

Hamartoma Mutation Neurofibromatosis type 2 Optical coherence tomography Retina Vestibular schwannoma 

Notes

Acknowledgments

This research was partially supported by Federal University of Minas Gerais, Brazil.

Funding

This study was partially funded by FAPEMIG (Grupos Emergentes).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with animals performed by any of the authors.

All procedures performed in the study involving human participants were in accordance with ethical standards of the institutional committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of OphthalmologyFederal University of Minas GeraisBelo HorizonteBrazil
  2. 2.Department of Clinical Medicine and Neurofibromatosis Reference CenterFederal University of Minas GeraisBelo HorizonteBrazil
  3. 3.Department of NutritionFederal University of Minas GeraisBelo HorizonteBrazil
  4. 4.Department of Pediatrics and Molecular ScienceFederal University of Minas GeraisBelo HorizonteBrazil

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