![](/images/graphics-bg.png)
An Update on the Ophthalmologic Features in the Phakomatoses
Joint Authors
Abdolrahimzadeh, Solmaz
Recupero, Santi Maria
Lambiase, Alessandro
Plateroti, Andrea Maria
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-07-17
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Abdolrahimzadeh, Solmaz& Plateroti, Andrea Maria& Recupero, Santi Maria& Lambiase, Alessandro. 2016. An Update on the Ophthalmologic Features in the Phakomatoses. Journal of Ophthalmology،Vol. 2016, no. 2016, pp.1-15.
https://search.emarefa.net/detail/BIM-1109915
Modern Language Association (MLA)
Abdolrahimzadeh, Solmaz…[et al.]. An Update on the Ophthalmologic Features in the Phakomatoses. Journal of Ophthalmology No. 2016 (2016), pp.1-15.
https://search.emarefa.net/detail/BIM-1109915
American Medical Association (AMA)
Abdolrahimzadeh, Solmaz& Plateroti, Andrea Maria& Recupero, Santi Maria& Lambiase, Alessandro. An Update on the Ophthalmologic Features in the Phakomatoses. Journal of Ophthalmology. 2016. Vol. 2016, no. 2016, pp.1-15.
https://search.emarefa.net/detail/BIM-1109915
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1109915