You searched for "neurofibromatosis"
Neurofibromatosis type 1 features
The aim in this study was to identify the incidence and de nova mutation rate of Neurofibramatosis type 1 (NF1) and describe the ocular and non-ocular findings in a population-based cohort of patients diagnosed over a 30-year period. The study...
Choroidal defects in neurofibromatosis
The aim of this study was to investigate the frequency of choroidal abnormalities using infrared reflectance imaging with optical coherence tomography (OCT) in paediatric patients with neurofibromatosis (NF) type 1. Thirty-eight eyes of 19 patients were reviewed. NF1 was diagnosed...
Prevalence of strabismus in neurofibromatosis type 1
The purpose of this study was to evaluate the prevalence of strabismus in NF1 by comparing children with normal neuroimaging to those with optic pathway glioma. The study included 236 children with NF1, of which 38 were excluded with no...
Longitudinal findings in children with neurofibromatosis type 1
This retrospective chart review evaluates the ophthalmologic findings of children with neurofibromatosis type 1 (NF1). Optic pathway gliomas (OPGs) are the most common tumours found in children with NF1. Findings are compared between eyes with and without optic pathway gliomas...Neurofibromatosis with multiple bilateral choroidal nevi and literature review
The aim is to present a case of neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, who presented with bilateral multiple choroidal nodular nevi following chemotherapy and mastectomy for breast cancer. Neurofibromatosis type-1 presents as a wide range of...Neurofibromatosis type 2 – diagnosis, features and MDT approach
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...
Long-term follow-up of OPGs in neurofibromatosis type 1
This retrospective observational case series reports outcomes of children followed-up for at least 10 years with optic pathway glioma (OPGs) related to neurofibromatosis type 1 (NF1) between January 1985 and July 2007. They observed 45 children for a mean of...
Outcomes of chemo versus no therapy for optic pathway glioma in NF1
The aim of this study was to evaluate the visual outcomes of a cohort of children with optic pathway gliomas and neurofibromatosis type 1 (NF1), with comparison of children treated with chemotherapy or not. This was a retrospective study of...Neuro-ophthalmology: the extended role of an orthoptist
Neuro-ophthalmology has always been a speciality of interest during my studies and now in my career. In 2018, I started a Band 7 post which gave me an extended role in neuro-ophthalmology and the responsibility of developing an orthoptic led...Childhood glaucoma
When a child is given a diagnosis of glaucoma, the impact upon that child and their family is enormous; equivalent to the diagnosis of a cancer [14]. This article outlines the knowledge, techniques and approaches that offer solutions to the...
