Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
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.
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.
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.
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.
KeywordsHamartoma Mutation Neurofibromatosis type 2 Optical coherence tomography Retina Vestibular schwannoma
This research was partially supported by Federal University of Minas Gerais, Brazil.
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.
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 was obtained from all individual participants included in the study.
- 11.Parry DM, MacCollin MM, Kaiser-Kupfer MI et al (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529–539Google Scholar
- 25.Meyers SM, Gutman FA, Kaye LD, Rothner AD (1995) Retinal changes associated with neurofibromatosis 2. Trans Am Ophthalmol Soc 93:245–257Google Scholar