Skarf B, Hoyt C S
Arch Ophthalmol. 1984 Jan;102(1):62-7. doi: 10.1001/archopht.1984.01040030046032.
Optic nerve hypoplasia is frequently associated with congenital CNS anomalies and endocrine disturbances. In a prospective study of 93 children with this condition, we found that 78% of those with bilateral involvement, poor vision, and nystagmus (group 1) had additional nonocular developmental abnormalities. In contrast, among children with unilateral optic nerve hypoplasia (group 2) or with bilateral segmental hypoplasia and good vision (group 3), only 21% had nonocular developmental disturbances. Delayed development in 23 children was the most frequent nonvisual problem associated with optic nerve hypoplasia, and in five cases it occurred in the absence of detectable CNS, endocrine, or medical abnormalities. Nine patients had decreased levels of thyroid hormone; three, decreased levels of growth hormone; and three, decreased levels of both. Five had histories of neonatal hypoglycemia. Of the children with endocrine disturbances, ten had delayed development, but only seven had anomalies on computed tomographic scan.
视神经发育不全常与先天性中枢神经系统异常和内分泌紊乱相关。在一项对93例患有此病儿童的前瞻性研究中，我们发现，双侧受累、视力差且有眼球震颤的患儿（第1组）中有78%还存在其他非眼部发育异常。相比之下，单侧视神经发育不全的患儿（第2组）或双侧节段性发育不全且视力良好的患儿（第3组）中，只有21%存在非眼部发育障碍。23例患儿发育迟缓是与视神经发育不全相关的最常见非视觉问题，其中5例发生在未检测到中枢神经系统、内分泌或医学异常的情况下。9例患者甲状腺激素水平降低；3例生长激素水平降低；3例两者水平均降低。5例有新生儿低血糖病史。在内分泌紊乱的患儿中，10例发育迟缓，但计算机断层扫描显示异常的只有7例。
