Keck Medical Center of the University of Southern California.
J Neuroophthalmol. 2012 Mar;32(1):58-67. doi: 10.1097/WNO.0b013e31824442b8.
Optic nerve hypoplasia (ONH) has been described as an increasingly prevalent cause of congenital blindness. Its association with hypopituitarism and absent septum pellucidum has been recognized for more than 40 years as "septo-optic dysplasia" or "de Morsier syndrome." More recent studies have suggested that these associations are independent of one another. This review was designed to assess the historical and recent evidence for associations of neuroradiologic, endocrinologic, and developmental problems in patients with ONH.
Historical and contemporary literature review.
The medical literature does not support the notion that Georges de Morsier ever described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt. Hypopituitarism and other more recently identified associations with ONH, such as developmental delay, hypothalamic dysfunction, and autism, are independent of septum pellucidum development. Other common neuroradiographic associations, such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia, may have prognostic significance.
Children with ONH need to be monitored for many systemic, developmental, and even life-threatening problems independent of the status of the septum pellucidum. "Septo-optic dysplasia" and "de Morsier syndrome" are historically inaccurate and clinically misleading terms that should be abandoned.
视神经发育不全（ONH）已被描述为一种越来越普遍的先天性失明原因。其与垂体功能减退和透明隔缺失的关联已被认识超过 40 年，被称为“视隔发育不良”或“德莫尔西综合征”。最近的研究表明，这些关联彼此独立。本综述旨在评估视神经发育不全患者在神经影像学、内分泌和发育问题方面的历史和近期证据。
历史和当代文献综述。
医学文献并不支持 Georges de Morsier 曾经描述过视神经发育不全病例或认识到其与垂体功能减退或透明隔缺失相关的观点。视神经发育不全与垂体功能减退的重要关联应归功于 William Hoyt。垂体功能减退症和其他最近与视神经发育不全相关的问题，如发育迟缓、下丘脑功能障碍和自闭症，与透明隔发育无关。其他常见的神经影像学关联，如胼胝体发育不良、脑回发育不良和皮质异位，可能具有预后意义。
患有视神经发育不全的儿童需要监测许多系统性、发育性甚至危及生命的问题，而与透明隔的状态无关。“视隔发育不良”和“德莫尔西综合征”是历史上不准确且临床上具有误导性的术语，应予以摒弃。
