scholarly journals Optic Nerve Incidentaloma

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000004
Author(s):  
Andrea Grosso ◽  
Eric J. Sigler ◽  
John Randolph
Keyword(s):  
Optic Nerve ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Benign Tumors ◽  
Healthy Individuals ◽  
Imaging Characteristics ◽  
Astrocytic Hamartoma

Retinal astrocytic hamartomas are rare, benign tumors of glial origin. These lesions are often associated with systemic syndromes, including tuberous sclerosis complex and neurofibromatosis type 1, but also may be encountered in otherwise healthy individuals as an acquired lesion. We present the following case to illustrate clinical and imaging characteristics typically seen in astrocytic hamartoma found as “optic nerve incidentaloma” in an otherwise healthy teenager.

scholarly journals Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

2009 ◽  
Vol 15 (2) ◽  
pp. 75 ◽  
Author(s):  
RamachandraB Nallur ◽  
MaliniS Suttur ◽  
SavithaR Mysore ◽  
Balasundaram Krishnamurthy
Keyword(s):  
Tuberous Sclerosis ◽  
Turner Syndrome ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Rare Association

scholarly journals An Update on the Ophthalmologic Features in the Phakomatoses

2016 ◽  
Vol 2016 ◽  
pp. 1-15 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Andrea Maria Plateroti ◽  
Santi Maria Recupero ◽  
Alessandro Lambiase
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Imaging Techniques ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Near Infrared Reflectance ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome

2004 ◽  
Vol 56 (6) ◽  
pp. 808-814 ◽  
Author(s):  
Yang Tang ◽  
Mark B. Schapiro ◽  
David N. Franz ◽  
Bonnie J. Patterson ◽  
Francis J. Hickey ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Expression Profiles ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Neurofibromatosis Type

Case of tuberous sclerosis complex complicated by mosaic localized neurofibromatosis type 1

2013 ◽  
Vol 40 (5) ◽  
pp. 413-414
Author(s):  
Yukako Murakami ◽  
Mari Wataya-Kaneda ◽  
Mari Tanaka ◽  
Ichiro Katayama
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Optic nerve tortuosity in children with neurofibromatosis type 1

2013 ◽  
Vol 43 (10) ◽  
pp. 1336-1343 ◽  
Author(s):  
Joyce Ji ◽  
Joshua Shimony ◽  
Feng Gao ◽  
Robert C. McKinstry ◽  
David H. Gutmann
Keyword(s):  
Optic Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Clinical trial design in neurofibromatosis type 1 as a model for other tumor predisposition syndromes

2020 ◽  
Vol 2 (Supplement_1) ◽  
pp. i134-i140
Author(s):  
Andrea M Gross ◽  
Brigitte C Widemann
Keyword(s):  
Clinical Trials ◽  
Neurofibromatosis Type 1 ◽  
Clinical Trial Design ◽  
Neurofibromatosis Type ◽  
Lessons Learned ◽  
Benign Tumors ◽  
Pediatric Cancer Patients ◽  
Patient Reported ◽  
Trial Endpoints

Abstract Up to 10% of all pediatric cancer patients may have an underlying germline mutation which predisposed them to develop a malignancy. With more patients being tested for and diagnosed with genetic tumor predisposition syndromes, there has been improved characterization of their many nonmalignant manifestations. However, designing and implementing clinical trials to treat the nonmalignant tumor and non-tumor manifestations of these syndromes poses many unique challenges. Unlike trials for malignancies where tumor response and survival can be used as straightforward trial endpoints, the nonmalignant manifestations are often chronic, evolve more slowly over time, and may not be immediately life-threatening. Therefore, they will likely require a different approach to both testing and treatment with a focus on more functional and patient-reported outcome trial endpoints. The recent success of treatment trials for the benign tumors plexiform neurofibromas in the tumor predisposition syndrome neurofibromatosis type 1 (NF1) can be used as a model for the development of clinical trials in other tumor predisposition syndromes. In this article, we review the unique challenges associated with targeting the nonmalignant aspects of these conditions as well as some of the lessons learned from the NF1 experience which may be applied to other syndromes in the future.

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