Optic Gliomas in Neurofibromatosis Type 1

Parkhurst, Emily; Abboy, Sridevi

doi:10.3928/01913913-20160810-03

Cited by 15 publications

(3 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In these studies, many of the NF1 patients did not go to the doctor for eye control, and in NF1 children, they said that they developed asymptomatic optic glioma at a time as early as one year old. They emphasized that with annual eye checks and early puberty screening, optical gliomas can be diagnosed early [40].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1

Eroğul,

Elmas,

Demir

et al. 2024

Health Sci. Q.

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disease affecting multiple organ systems and showing many different clinical symptoms. The severity of the disease varies from person to person and progresses gradually over the years. In this study, 17 NF1 patients who had a definite diagnosis were evaluated in terms of genetic, ophthalmological, and nervous system investigations. Approximately 5000 patients who visited medical genetics clinic between 2012 and 2022 are recorded in our archive. In 17 of these patients, a definitive genetic diagnosis was made. In the course of the study, the researchers collected some clinical parameters such as antenatal, intrapartum, and postpartum history and family history. In the family history, the researchers did a detailed pedigree with at least 3 generations of analysis, questioned parental kinship, looked for similar members in families, and identified inheritance patterns of the disorder. Peripheral venous blood samples were taken from the patients and sent to a commercial laboratory for gene panels or WES while the karyotyping was carried out in our laboratory. After obtaining the definitive genetic diagnosis of all patients, we compiled a table with the other parameters we questioned. This study presented the genotype and phenotype findings of NF1 patients. Ophthalmological symptoms in patients were also examined. These new-generation genetic disease diagnosis methods can be routinely used in clinical practice by medical geneticists. The diagnosis of a disease is one step ahead of its treatment. Because if the necessary diagnosis is not made, treatment of the disease is not possible. While this situation was more difficult in the past, nowadays, with the developing technology, diseases can be diagnosed more easily. In NF1 disease, more information can be obtained as a result of genetics, imaging, and examinations of other branches.

show abstract

Section: Discussionmentioning

confidence: 99%

Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1

Eroğul,

Elmas,

Demir

et al. 2024

Health Sci. Q.

View full text Add to dashboard Cite

show abstract

“…The differential diagnosis for a solitary optic nerve tumor includes an optic nerve sheath meningioma and an optic glioma. Meningioma is commonly associated with neurofibromatosis type 2 ( 27 ) and optic glioma is commonly associated with neurofibromatosis type 1 ( 28 ), while hemangioblastoma is commonly associated with the VHL disease. The patient had the VHL disease with a germline mutation of the VHL gene.…”

Section: Discussionmentioning

confidence: 99%

VHL-Associated Optic Nerve Hemangioblastoma Treated with Stereotactic Radiosurgery

Kanno

Osano²,

Shinonaga

2018

jkcvhl

View full text Add to dashboard Cite

Central nervous system hemangioblastomas are generally restricted to the cerebellum, spinal cord, and brainstem. Supratentorial hemangioblastomas are uncommon, and optic nerve hemangioblastomas are extremely rare, with fewer than 25 reports including this case. In this report, we present the case of a 36-year-old woman with von Hippel–Lindau (VHL) disease who presented with progressive diminution of vision in the left eye due to a retrobulbar optic nerve hemangioblastoma. The patient had a history of cerebellar/spinal hemangioblastomas and pancreatic cysts, and her father and brother were patients with VHL disease. Gadolinium-enhanced magnetic resonance imaging showed intraorbital retrobulbar–enhanced mass on the left optic nerve. The optic nerve hemangioblastoma was treated with fractionated stereotactic radiosurgery using Novalis. Eighteen months after the stereotactic radiosurgery, the tumor volume decreased although the patient lost vision. This report presents an extremely rare case of optic nerve hemangioblastoma, which is the first case treated with stereotactic radiosurgery.

show abstract

“…In the literature, the mean age at diagnosis ranges from 3 to 6 years [6,10,11,12,16], with estimates in the lower part of this range in studies with a systematic MRI screening program for NF1 patients [15,16,22,26]. OPGs rarely grow after 10 years of age [27] and few cases of adolescent or adult patients with a late onset or late-progressive OPG have been reported in the literature [25,28].…”

Section: Optic Pathway Gliomas In Nf1mentioning

confidence: 99%

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

Cassina

Frizziero

Opocher

et al. 2019

Cancers

View full text Add to dashboard Cite

Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting approximately 15–20% of patients. The lack of well-established prognostic markers and the wide clinical variability with respect to tumor progression and visual outcome make the clinical management of these tumors challenging, with significant differences among distinct centers. We reviewed published articles on OPG diagnostic protocol, follow-up and treatment in NF1. Cohorts of NF1 children with OPG reported in the literature and patients prospectively collected in our center were analyzed with regard to clinical data, tumor anatomical site, diagnostic workflow, treatment and outcome. In addition, we discussed the recent findings on the pathophysiology of OPG development in NF1. This review provides a comprehensive overview about the clinical management of NF1-associated OPG, focusing on the most recent advances from preclinical studies with genetically engineered models and the ongoing clinical trials.

show abstract

Optic Gliomas in Neurofibromatosis Type 1

Cited by 15 publications

References 20 publications

Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1

Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1

VHL-Associated Optic Nerve Hemangioblastoma Treated with Stereotactic Radiosurgery

Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

Contact Info

Product

Resources

About