Autopsy case of bilateral optic nerve aplasia with microphthalmia: Neural retina formation is required for the coordinated development of ocular tissues

Hideyo Ohuchi, Kaori Taniguchi, Satoru Miyaishi, Hitomi Kono, Hirofumi Fujita, Tetsuya Bando, Chiharu Fuchizawa, Yuko Ohtani, Osamu Ohtani

Research output: Contribution to journalArticle

1 Citation (Scopus)


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.

Original languageEnglish
Pages (from-to)131-138
Number of pages8
JournalActa Medica Okayama
Issue number2
Publication statusPublished - 2016



  • Eye development
  • Human congenital anomalies
  • Microphthalmia
  • Neural retina
  • Optic nerve aplasia

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this