Book chapter
The Phakomatoses
Albert and Jakobiec's Principles and Practice of Ophthalmology, pp.7891-7924
Springer International Publishing, Fourth edition
04/23/2022
DOI: 10.1007/978-3-030-42634-7_264
Abstract
Phakomatoses, also known as neuro-oculo-cutaneous syndromes, are a group of genetic and acquired disorders characterized by systemic hamartomas, primarily in the central nervous system, eyes, and skin. These disorders are generally autosomal dominant, multisystemic, and appear at an early age. Examples of phakomatoses include von-Hippel-Lindau disease, tuberous sclerosis, neurofibromatosis type I and II, Sturge-Weber syndrome, ataxia telangiectasia, Wyburn-Mason syndrome, and retinal cavernous hemangiomatosis. Rarer phakomatoses such as sebaceous nevus syndrome, phakomatosis pigmentovascularis, and neurocutaneous melanosis have also been described. Diagnosis and management of phakomatoses often require a multidisciplinary approach, which may include neurology, ophthalmology, surgery, psychology, physical rehabilitation, and/or genetic counseling. Phakomatoses are often life-long conditions, so many patients also require long-term follow-up.
Details
- Title: Subtitle
- The Phakomatoses
- Creators
- Sari YordiElaine M BinkleyElias I TraboulsiArun D SinghJoan Marie O’BrienEvangelos S GragoudasDan S GombosMary E Aronow
- Resource Type
- Book chapter
- Publication Details
- Albert and Jakobiec's Principles and Practice of Ophthalmology, pp.7891-7924
- Edition
- Fourth edition
- Publisher
- Springer International Publishing; Cham
- DOI
- 10.1007/978-3-030-42634-7_264
- Language
- English
- Date published
- 04/23/2022
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984251303002771
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