Fard M A, Wu-Chen W Y, Man B L, Miller N R
The Neuro-Ophthalmology Division, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Pediatr Endocrinol Rev. 2010 Sep;8(1):18-24.
Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur. The clinical manifestations include poor visual function in one or both eyes, developmental delay, seizures, sleep disturbances, and precocious puberty. A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible.
视隔发育不良是一种罕见的疾病,其特征为视神经发育不全;中线发育缺陷,包括透明隔缺如、胼胝体变薄或缺失,或两者皆有;以及垂体激素缺乏。大多数病例为散发性,但也有罕见的家族性病例。临床表现包括单眼或双眼视力功能不佳、发育迟缓、癫痫发作、睡眠障碍和性早熟。对这些患者进行终身多学科治疗对于优化其生长发育并帮助他们尽可能过上正常生活至关重要。