Storm R L, PeBenito R
Ann Ophthalmol. 1984 Oct;16(10):988-92.
A case of bilateral optic nerve aplasia (ONA) associated with hydranencephaly and other multiple congenital anomalies in an infant is reported. Its occurrence in an offspring of a consanguineous union may implicate an autosomal recessive transmission. A brief review of ocular embryology is presented in relation to the possible pathogenesis of bilateral ONA. Bilateral ONA is most likely to be due to failure of the retinal ganglion cells to develop, consequently, the optic disc and nerve, and the retinal blood vessels are absent. Bilateral ONA is rare, and is associated with major CNS anomalies, and with other multiple, often severe congenital malformations. Bilateral ONA appears to be a distinct entity, independent from its unilateral counterpart and can be adequately diagnosed on clinical grounds.
报告了一例婴儿双侧视神经发育不全（ONA）合并积水性无脑畸形及其他多种先天性异常的病例。其在近亲结婚后代中的出现可能提示常染色体隐性遗传。结合双侧ONA可能的发病机制，对眼部胚胎学进行了简要综述。双侧ONA很可能是由于视网膜神经节细胞发育失败，因此视盘、视神经及视网膜血管均缺失。双侧ONA罕见，与主要的中枢神经系统异常以及其他多种往往较为严重的先天性畸形相关。双侧ONA似乎是一种独特的病症，独立于单侧ONA，可根据临床情况进行充分诊断。
