Optic Nerve Hypoplasia

Summary: Optic nerve hypoplasia is a condition, present at birth, in which the optic nerve (the nerve that carries visual information from the eye to the brain) in one or both eyes is not developed completely which can result in vision loss.

Optic nerve hypoplasia (ONH) is a congenital condition in which one or both optic nerves are not fully developed at birth. This can occur in isolation or as a feature of the syndrome called de Morsier’s Syndrome or Septo-Optic Dysplasia (SOD) which includes midline brain malformations and deficiencies of pituitary hormones. In addition to decreased vision, patients may experience hormone deficiencies, developmental delay, sleep dysfunction and seizures.  ONH is a significant concern and a leading cause of visual impairment in newborns, and is being diagnosed with increasing frequency.

Loss of vision due to absent optic nerve fibers is the most prevalent and often significant symptom.  The optic nerve, which transmits visual information from the retina to the brain, normally has about 1.2 million fibers. ONH patients have noticeably fewer fibers, and the amount of neural tissue can differ between patients. The majority of patients (approximately 80%) have bilateral ONH. Visual function in patients can range from no light perception or total blindness to nearly normal vision in one or both eyes.

A research team lead by genetic scientist, Dr. Kang Zhang, operating in conjunction with UCSD’s Shiley Eye Center has created an aggressive and ground-breaking research project to develop biotechnology to partially or completely restore vision in ONH patients using genetic science and stem cells to generate new, usable optic nerve tissue.

For phase 1, Dr. Zhang’s team will isolate and identify the genetic deficiencies or mutations involved in ONH patients.  In phase 2, using this genetic information, the goal will be to develop an effective stem cell therapy using animal models and induced pluripotent stem cells or alternative stem cell technology combined with the proper growth factors and signaling protocols to generate retina ganglion cells and, ultimately, functioning optic nerve tissue throughout the optic nerve canal.  Success in animal models will justify moving into human trials with ONH patients pursuant to then-current FDA protocol.

Giving to the Optic Nerve Regeneration Fund can be done here.

The following links may provide you with more information regarding optic nerve hypoplasia and how you can help us find a cure. Click on the names of the organizations to visit their webpages.

The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.