Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives

IF 3.1 Q1 OPHTHALMOLOGY

Eye and Brain Pub Date : 2019-06-01 DOI:10.2147/EB.S186306

Michael J. Wan, Kathy Chan, B. Jastrzembski, Asim Ali

引用次数: 10

Abstract

Abstract Tuberous sclerosis complex (TSC) is a complex, multi-system disorder with a well-described underlying genetic etiology. While retinal findings are common in TSC and important in establishing the diagnosis, TSC also has many potential neuro-ophthalmology manifestations. The neuro-ophthalmology manifestations of TSC can have a significant impact on visual function and are sometimes a sign of serious neurological disease. The purpose of this review is to describe the neuro-ophthalmological manifestations of TSC. These manifestations include optic nerve hamartomas, elevated intracranial pressure, cranial nerve palsies, cortical visual impairment, visual field deficits, and ocular toxicity from vigabatrin treatment of infantile spasms. It is important to be aware of potential neuro-ophthalmological manifestations in these patients in order to detect signs of vision- or life-threatening disease and to optimize visual function and quality-of-life.

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结节性硬化症的神经-眼科表现:目前的观点

摘要结节性硬化综合征（TSC）是一种复杂的多系统疾病，其潜在的遗传病因已被充分描述。虽然视网膜检查结果在TSC中很常见，对确定诊断很重要，但TSC也有许多潜在的神经眼科表现。TSC的神经眼科表现会对视觉功能产生重大影响，有时是严重神经疾病的征兆。这篇综述的目的是描述TSC的神经眼科表现。这些表现包括视神经错构瘤、颅内压升高、脑神经麻痹、皮质视觉损伤、视野缺陷以及维巴替林治疗婴儿痉挛的眼部毒性。重要的是要意识到这些患者潜在的神经眼科表现，以检测视力或危及生命的疾病迹象，并优化视觉功能和生活质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Eye and Brain OPHTHALMOLOGY-

CiteScore

7.90

自引率

2.30%

发文量

审稿时长

16 weeks

期刊介绍： Eye and Brain is an international, peer-reviewed, open access journal focusing on basic research, clinical findings, and expert reviews in the field of visual science and neuro-ophthalmology. The journal’s unique focus is the link between two well-known visual centres, the eye and the brain, with an emphasis on the importance of such connections. All aspects of clinical and especially basic research on the visual system are addressed within the journal as well as significant future directions in vision research and therapeutic measures. This unique journal focuses on neurological aspects of vision – both physiological and pathological. The scope of the journal spans from the cornea to the associational visual cortex and all the visual centers in between. Topics range from basic biological mechanisms to therapeutic treatment, from simple organisms to humans, and utilizing techniques from molecular biology to behavior. The journal especially welcomes primary research articles or review papers that make the connection between the eye and the brain. Specific areas covered in the journal include: Physiology and pathophysiology of visual centers, Eye movement disorders and strabismus, Cellular, biochemical, and molecular features of the visual system, Structural and functional organization of the eye and of the visual cortex, Metabolic demands of the visual system, Diseases and disorders with neuro-ophthalmic manifestations, Clinical and experimental neuro-ophthalmology and visual system pathologies, Epidemiological studies.