Ouvrier R, Billson F
J Child Neurol. 1986 Jul;1(3):181-8. doi: 10.1177/088307388600100302.
Optic nerve hypoplasia is a developmental anomaly of the retina and optic nerves in which there is a reduction in the number of ganglion cells in the retina and of their centripetal fibers projecting through the optic nerve to the lateral geniculate body. The condition may be unilateral or bilateral and is frequently misdiagnosed as optic atrophy. In about 25% of cases, bilateral optic nerve hypoplasia is associated with a variety of cerebral malformations of which the commonest single disturbance is absence of the septum pellucidum (septo-optic dysplasia). Cerebral malformations and their endocrine accompaniments are also seen, though less frequently, in unilateral hypoplasia. The endocrine disturbances that may accompany optic nerve hypoplasia include growth hormone deficiency, adrenal insufficiency, hypothyroidism, and disturbances of antidiuretic hormone production. Precocious puberty and hypogonadism have also been observed. The prognosis of optic nerve hypoplasia depends upon the severity of the changes in the optic nerves and especially the degree of associated cerebral malformation. The finding of optic nerve hypoplasia should lead to thorough ophthalmologic, neurologic, and endocrinologic evaluation of the patient.
视神经发育不全是视网膜和视神经的一种发育异常，表现为视网膜中神经节细胞数量减少，以及通过视神经投射到外侧膝状体的向心纤维数量减少。这种情况可为单侧或双侧，常被误诊为视神经萎缩。在约25%的病例中，双侧视神经发育不全与多种脑畸形相关，其中最常见的单一病变是透明隔缺如（视隔发育不良）。在单侧发育不全中也可见脑畸形及其内分泌伴随症状，不过相对较少。视神经发育不全可能伴随的内分泌紊乱包括生长激素缺乏、肾上腺功能不全、甲状腺功能减退以及抗利尿激素分泌紊乱。也观察到性早熟和性腺功能减退。视神经发育不全的预后取决于视神经变化的严重程度，尤其是相关脑畸形的程度。发现视神经发育不全应促使对患者进行全面的眼科、神经科和内分泌科评估。
