Duvall J, Miller S L, Cheatle E, Tso M O
Am J Ophthalmol. 1987 May 15;103(5):701-5. doi: 10.1016/s0002-9394(14)74333-8.
We examined a 5-month-old boy who had an iris coloboma in the left eye, persistent hyaloid artery, macular hypoplasia, left aberrant nerve palsy, and bilateral blepharoptosis. He had microcephaly and bilateral corticospinal tract dysfunction. Additionally, he had brachycephaly, a high arched palate, hypospadias, a malformed left external ear, and bilateral finger contractures. Computed tomography showed agenesis of the corpus callosum. He died at age 5 months. On histologic examination the left eye showed an iris coloboma, ciliary epithelial differentiation to the retina, undifferentiated neuroepithelium beneath the equatorial retina, persistent hyaloid artery, and optic nerve coloboma and pit. These findings may result from failure of the fetal fissure of the optic cup to close, with redundant folds of neuroepithelium and focal aberrant differentiation. The constellation of developmental defects indicates that an insult occurred during the sixth week of gestation.
我们检查了一名5个月大的男孩，他左眼患有虹膜缺损、永存玻璃体动脉、黄斑发育不全、左侧异常神经麻痹和双侧上睑下垂。他有小头畸形和双侧皮质脊髓束功能障碍。此外，他还有短头畸形、高拱腭、尿道下裂、左侧外耳畸形和双侧手指挛缩。计算机断层扫描显示胼胝体发育不全。他在5个月大时死亡。组织学检查显示左眼有虹膜缺损、睫状体上皮向视网膜分化、赤道视网膜下方未分化的神经上皮、永存玻璃体动脉以及视神经缺损和凹陷。这些发现可能是由于视杯胎儿裂未能闭合，伴有神经上皮的多余褶皱和局灶性异常分化。一系列发育缺陷表明在妊娠第6周发生了损伤。
