Autopsy Case of Bilateral Optic Nerve Aplasia with Microphthalmia: Neural Retina Formation Is Required for the Coordinated Development of Ocular Tissues

作者：Ohuchi Hideyo^*; Taniguchi Kaori; Miyaishi Satoru; Kono Hitomi; Fujita Hirofumi; Bando Tetsuya; Fuchizawa Chiharu; Ohtani Yuko; Ohtani Osamu

来源：Acta Medica Okayama, 2016, 70(2): 131-137.

• eye development
• human congenital anomalies
• optic nerve aplasia
• microphthalmia
• neural retina

Human congenital anomalies provide information that contributes to the understanding of developmental mechanisms. Here we report bilateral optic nerve aplasia (ONA) with microphthalmia in the autopsy of the cadaver of a 70-year-old Japanese female. The gross anatomical inspection of the brain showed a cotton thread-like cord in the presumed location of the optic nerve tract or chiasm. Histologically, no neural retina, optic nerve bundle or retinal central vessels were formed in the eye globe, and the retinal pigment cells formed rosettes. The cornea, iris, and lens were also histologically abnormal. Immunohistochemically, no retinal cells expressed beta III tubulin, and Pax6-immunoreactive cells were present in the ciliary non-pigmented epithelial cells. This case of ONA could be attributed to the agenesis of retinal projection neurons as a sequel to the disruption of neural retina development. The neural retina formation would coordinate the proper development of ocular tissues.

• 出版日期2016-4