Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
| Autor: | Luciana Bastos-Rodrigues, Márcio Bittar Nehemy, Luiz Oswaldo Carneiro Rodrigues, Débora Marques de Miranda, Vanessa Waisberg |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine Neurofibromatosis 2 Pathology medicine.medical_specialty Visual acuity Adolescent Eye Diseases genetic structures DNA Mutational Analysis Visual Acuity medicine.disease_cause Retina Frameshift mutation Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Genes Neurofibromatosis 2 medicine Humans Hamartoma Genetic Testing Neurofibromatosis type 2 Pathological Mutation business.industry DNA Middle Aged medicine.disease Dilated fundus examination eye diseases Sensory Systems Ophthalmology Phenotype 030104 developmental biology Female Allelic heterogeneity medicine.symptom business Tomography Optical Coherence 030217 neurology & neurosurgery |
| Zdroj: | Graefe's Archive for Clinical and Experimental Ophthalmology. 257:1453-1458 |
| ISSN: | 1435-702X 0721-832X |
| DOI: | 10.1007/s00417-019-04348-5 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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