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

• Published in: Graefe's archive for clinical and experimental ophthalmology Vol. 257; no. 7; pp. 1453 - 1458
• Main Authors: Waisberg, Vanessa, Rodrigues, Luiz Oswaldo Carneiro, Nehemy, Márcio Bittar, Bastos-Rodrigues, Luciana, de Miranda, Débora Marques
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2019; Springer Nature B.V
• Subjects: Acuity; Color vision; DNA sequencing; Eye examinations; Frameshift mutation; Genetic disorders; Genetics; Genotypes; Leukocytes (mononuclear); Medicine; Medicine & Public Health; Mutation; Neurofibromatosis; Neurofibromatosis 2; Neurofibromin 2; Neurological disorders; Ophthalmology; Peripheral blood mononuclear cells; Phenotypes; Phenotypic variations; Photography; Rare diseases; Retina; Stop codon; Tumors; Retina; Mutation; Neurofibromatosis type 2; Optical coherence tomography; Hamartoma; Vestibular schwannoma
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s00417-019-04348-5

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.