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This Optic Nerve Hypoplasia web portal has been generously supported by The Karl Kirchgessner Foundation.

The Vision Center at Children's Hospital Los Angeles answers the most asked questions on optic nerve hypoplasia (ONH).

What is Optic Nerve Hypoplasia (ONH)?
The syndrome of optic nerve hypoplasia (ONH) is the under-development or absence of the optic nerve combined with possible brain and endocrine abnormalities. It is also known as septo-optic dysplasia or DeMorsier's syndrome. Now at epidemic proportions, ONH is the single leading ocular cause of blindness and visual impairment in young children.

How is ONH diagnosed? 
An ophthalmologist, or eye doctor, can diagnose optic nerve hypoplasia by looking inside the eye with an ophthalmoscope to determine if the front surface of the optic nerve appears smaller than normal. In addition, in some cases of ONH children will have a nystagmus, which is unusual eye movement. The eyes may seem to move around with no real pattern or purpose. This occurs because the eyes are not able to focus well enough to hold still.

What is the cause of ONH?
There is no known cause; however, extensive research and studies are ongoing for children diagnosed with this eye disease.

Does ONH cause complete blindness?
Your child will undergo a number of eye examinations to determine his or her vision. The younger the child, the more difficult it is to tell the amount of vision present. Depending on your child's ability to cooperate with the examination, an experienced ophthalmologist can usually tell your child's ability to see. However, this usually cannot be done with children under the age of 3-4 years. It takes a number of years to be able to tell what a child's vision will be like. The vision does not worsen over time from ONH. It may, however, improve over time.

What vision impairments are caused by ONH?
Vision impairment in children with ONH ranges from completely blind with no light perception, to very good vision and it may occur in one or both eyes. Most children with ONH experience some improvement in their vision during their early childhood years.

What other problems may occur in a child with ONH?
Many children with ONH have problems with their pituitary gland, growth hormones, thyroid gland/hormone, sex hormones, adrenal glands and cortisol, low blood sugar (hypoglycemia), anti-diuretic hormone (ADH), and prolactin. More information on these conditions can be found in our ONH parent handbook. (click here)

What are the life expectancy and health risks of children with ONH?
At times, the first couple years of life may be challenging, as some children with ONH may have difficulties regulating their body’s needs such as thirst and hunger. Otherwise, children with ONH are expected to lead full, active lives.

What specialists should I see?
Visually impaired children must be tested with different methods than non-visually impaired children. Children with ONH may need to be tested and treated by experienced specialists, which include pediatricians; ophthalmologist; endocrinologist; neurologist; psychologists; occupational, physical and speech therapists; and teachers of the visually impaired. The areas that can be affected involve gross and fine motor skills; intelligence, speech and interacting with people. In some people, brain abnormalities associated with ONH cause seizures.

Is there a cure for ONH?
Currently there is no cure for ONH.

Do you recommend stem cell therapy for ONH?
We are aware of the Stem Cells China program; however, we have not yet reached the state of knowledge with which stem cell treatment for ONH in humans can be done in the US or Europe. Research with stem cells for this and other optic nerve conditions is being done on laboratory animals. Stem cells research is the most promising form of therapy for ONH in the future; unfortunately, it is far from ready for use in humans. We have not yet even achieved success in treating mice with stem cells. There are considerable risks to this treatment as it is purportedly being administered in China, and the benefits are presently unknown. In the US and Europe, experimental research exposing children to potential serious risks and no known benefits, is considered unethical. The testimony of previous recipients that stem cell therapy resulted in improved vision bears little scientific merit as many children with ONH enjoy late, spontaneous improvement in vision. Based on this information, we are unable to recommend the Stem Cells China program as a safe and effective treatment of ONH.