The optic nerve is a collection of thousands of nerve fibers that transmit visual signals from the eye to the brain. The optic nerve develops and grows during intrauterine life.
Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small) [See figure 1].
The diagnosis of ONH is typically made by the appearance of small/pale optic nerve on ophthalmoscopic examination of the eye. An MRI scan is sometimes utilized to confirm the diagnosis. It is difficult to predict visual acuity potential on the basis of optic nerve appearance.
Although optic nerve hypoplasia has been associated with maternal diabetes, maternal alcohol and drug abuse, maternal use of anti-epileptic drugs, and young maternal age (20 years of age or less), most cases of ONH have no clearly identifiable cause. There are no known racial or socioeconomic factors in the development of ONH, nor is there a known association with exposure to pesticides.
Vision impairment from ONH ranges from mild to severe and may affect one or both eyes. Nystagmus (shaking of the eyes) may be noted when both eyes are involved. The incidence of strabismus is increased with ONH.
Optic nerve hypoplasia can be associated with several developmental brain abnormalities, most commonly midline brain structures including the pituitary gland (septo-optic dysplasia or deMorsier syndrome). If the pituitary gland is abnormal, growth hormone deficiency may result in delayed growth and development of a child.
An MRI scan is sometimes performed to evaluate brain and/or optic nerve structure. Evaluation by an endocrinologist (including blood hormone levels) may be indicated.
In general, ONH is a stable and nonprogressive condition which does not deteriorate. Vision may improve slightly over the first few years of life as the result of brain maturation. Nystagmus may decrease over time.
There is no medical or surgical treatment for ONH. However, occlusion of the better seeing eye may improve vision in the other eye. Children with significant vision loss in both eyes may benefit from early supportive attention by low vision specialists. Stem cell treatment has not been shown to be effective for ONH.
National Institute of Neurologial Didorders and Stroke
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St. Louis Children’s Hospital Press Release, February 18, 2008, “Stem cell treatment for children with eye nerve disease called ‘medical hoax’”.
Ophthalmology Times, September 1, 2008 issue, Industry News, “Parents warned about ‘medical hoax’ surrounding optic nerve hypoplasia. (Ophthalmology Times E-News, August 1, 2008).
EyeWorld, January 2009, Sounding the alarm, stem cell treatment scam. Maxine Lipner, Senior EyeWorld Contributing Editor.
BBC Northern Ireland, May 16, 2009, “The hunt for a stem cell miracle. http://news.bbc.co.uk/2/hi/uk_news/8052227.stm
60 Minutes, September 15, 2010, “21st Century Snake Oil”. (Consultant) http://www.cbsnews.com/stories/2010/04/16/60minutes/main6402854.shtml
Tychsen L, Lueder G, Stahl, E, Giangiacomo J: Stem cell therapy does not improve visual function or structure in children with optic nerve hypoplasia (septo-optic dysplasia). 2010 AAPOS Abstract #034. J AAPOS 2010;14(1) e9.
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