Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives.

IF 3.1 Q1 OPHTHALMOLOGY

Eye and Brain Pub Date : 2019-10-18 eCollection Date: 2019-01-01 DOI:10.2147/EB.S186307

Mario Ganau, Sibel Huet, Nikolaos Syrmos, Marco Meloni, Jayaratnam Jayamohan

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引用次数: 24

Abstract

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly variable phenotypic penetration, its classical triad include a) optic nerve hypoplasia (ONH), b) agenesis of septum pellucidum and corpus callosum, and c) hypoplasia of the hypothalamo-pituitary axis. SOD has stringent diagnostic criteria requiring 2 or more features of the classic triad, therefore it represents a separate entity from other conditions such as ONH and achiasmia syndromes which share only some of these aspects, or SOD plus syndrome which is characterized by additional cortical abnormalities. Starting from its etiology and epidemiology, this narrative review focuses on the management of SOD patients, including their diagnosis, treatment and follow-up. To date, SOD is not curable; nonetheless, many of its symptoms can be improved through a tailored approach, consisting of hormonal replacement, corrective ophthalmological surgery and neuropsychological support.

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视间隔发育不良的神经眼科表现：目前的展望。

视隔发育不良（SOD），也称为德莫尔综合征，是一种罕见的先天性疾病，属于脑中线畸形组。尽管表型穿透高度可变，但其经典三联征包括a）视神经发育不全（ONH），b）透明隔和胼胝体发育不全，以及c）下丘脑-垂体轴发育不全。SOD具有严格的诊断标准，需要经典三联征的两个或多个特征，因此它代表了一个独立于其他疾病的实体，如仅具有这些方面的ONH和无意识综合征，或以额外皮质异常为特征的SOD+综合征。从其病因和流行病学出发，本叙述性综述侧重于SOD患者的管理，包括他们的诊断、治疗和随访。迄今为止，SOD是无法治愈的；尽管如此，它的许多症状可以通过量身定制的方法得到改善，包括激素替代、眼科矫正手术和神经心理支持。

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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.