Optic Nerve Hypoplasia

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

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 leading ocular cause of blindness and visual impairment in young children. A child diagnosed with ONH will undergo a number of evaluations and brain function tests. A neurologist can look at the brain structure through the use of MRI (magnetic resonance imaging). After such tests, your doctor should be able to tell if there are major problems with brain structure. In some instances, ONH includes the absence or abnormal development of the corpus callosum (a thick band of nerve fibers that connect the two hemispheres of the brain) and septum pellucidum (a thin membrane of connective tissue between the brain’s lateral ventricles). Abnormal development of the corpus callosum may or may not cause abnormal brain functions, and the effects can range from mild to severe. Absence of the septum pellucidum does not affect brain functions.

Assessing the brain function of a child with poor vision can be difficult. Visually impaired children must be tested with different methods than non-visually impaired children. Be sure that your child is tested and treated by experienced specialists, including: pediatricians; 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 social interactions. In some people, brain abnormalities associated with ONH cause seizures.

The development of the pituitary gland, found at the base of the brain, can also be affected in children with ONH. The pituitary is the body’s master control gland, which makes and directs important hormones required for growth, energy control and sexual development. When a person doesn't’t make hormones correctly, this is called hypopituitarism. The lack of these hormones can cause a great deal of problems for the children who are missing them.

Children with ONH may also experience sleep dysfunction, gastrointestinal distress, problems with hunger or thirst, difficulties with temperature regulation and autism spectrum disorders.

Diagnosis
ONH is diagnosed by an ophthalmologist, who will use an ophthalmoscope to look inside the eye 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.

Treatment
You will need to make sure your child is under the care of an endocrinologist, a doctor who specializes in hormone problems. In addition, an ophthalmologist should monitor your child’s vision on an ongoing basis. All of the endocrine conditions can be managed through daily medication routines. The medications are delivered by nose, mouth or injection. Even with close and careful monitoring, the endocrine deficiencies can be dangerous to those afflicted. Without careful monitoring, these conditions can be life-threatening.

  • Meet the ONH Team
  • Research Studies
  • Education and Scientific Information
  • News and Events
  • Resources for ONH
  • ONH FAQs

Mark S. Borchert, MD, is director of the Eye Birth Defects Institute and Eye Technology Institute in The Vision Center at Children's Hospital Los Angeles. Dr. Borchert is an associate professor of clinical ophthalmology and neurology at the Keck School of Medicine of the University of Southern California. After receiving his medical degree at Baylor College of Medicine, he completed his residency at the Doheny Eye Institute of the University of Southern California and a fellowship in neuro-ophthalmology at the Massachusetts Eye & Ear Infirmary, Harvard University.

Dr. Borchert, who has been listed in “Best Doctors in America,” also has received honors from the Pan American Association of Ophthalmology, the American Academy of Ophthalmology, and Society of Heed Fellows, as well as several teaching awards from the Keck School of Medicine of the University of Southern California. He directs the world’s largest study into optic nerve hypoplasia, a leading cause of blindness and visual impairment in infants in the United States and Europe.

Pamela Garcia-Filion, PhD, MPH, is a research associate with The Vision Center at Children's Hospital Los Angeles. She is responsible for providing scientific support for epidemiological and clinical research projects within the ONH research program. Dr. Garcia-Filion’s expertise is in database infrastructure and the application of research and statistical methodology to advance research objectives. Her research interest is investigating the prenatal correlates of ONH, and identifying early clinical risk factors for adverse developmental outcomes in children with ONH. Dr. Garcia-Filion completed a doctoral degree in epidemiology from the Division of Biostatistics, Department of Preventive Medicine, Keck School of Medicine, University of Southern California.

Carly Stewart, MHA, is a clinical research coordinator for the ONH research studies. Ms. Stewart utilizes her expertise in health administration to coordinate and streamline the procedures of the ONH studies, as well as provides clinical care coordination for the patients involved in our research. She is responsible for study recruitment and collecting data annually from the hundreds of participants in these studies. Ms. Stewart also provides patient education on the ONH diagnosis and assistance in obtaining therapeutic interventions for ONH families. Ms. Stewart received a bachelor of arts in art history from Boston University and a masters in health administration from the University of Southern California.

ONH Registry Study

The ONH registry is a long-term prospective study of children with ONH, which collects information on clinical findings and functional outcomes, including visual acuity, endocrine dysfunction, neurologic deficits and cognitive abilities.

  • Participants are less than 24 months of age upon enrollment and followed annually through puberty.
  • The objectives of this research registry are to determine the clinical prenatal risk factors of ONH and to investigate the clinical characteristics associated with functional outcomes in order to identify opportunities for therapeutic and rehabilitative interventions.
  • Additionally, this research registry functions as an umbrella study for the development of more specialized investigations of the syndrome.
  • This study is funded in part by the One Small Voice Foundation and the Southern California Clinical and Translational Science Institute (SC CTSI).

ONH Disease Distribution Survey

The ONH disease distribution survey is designed to examine the geographic distribution of ONH across the United States.

  • This is a national on-line survey available to all families with a child diagnosed with ONH.
  • The brief survey asks for the child’s birth season/year, the child's race/ethnicity, and the birth mother's residential address during the three months prior to conception and during her 1st and 2nd trimesters.
  • To participate, please go to www.onhsurvey.org to complete the survey. The survey takes 5-10 minutes to complete.
  • The ONH disease distribution survey received a Certificate of Confidentiality by the National Institutes of Health. This study is funded in part by Prevent Blindness America.

Endocrine Dysfunction and Growth Hormone Deficiency in Children with ONH

Growth hormone deficiency is common in children with ONH.

Identification and Treatment of Sleep Dysfunction in Children with Vision Impairment

The purpose of this study is to identify sleep problems due to biological clock dysfunction in children with ONH and other vision impairments and to develop effective treatments for this condition.

The ONH Research Program at The Vision Center at Children's Hospital Los Angeles is the largest of its kind. The research studies conducted on all aspects of ONH have led to the information and scientific publications, featured here.

In the News

Searchable Resources Database

Click here to view a searchable database of resources. The resources on this page have been compiled as a service to families. Every effort is made to ensure the information is up to date. We do not endorse or specifically recommend the resources listed here. Users are encouraged to request references and use judgment when considering any resources provided on this site.

National Resources

Family Support

For more information on ONH or a way to connect with other families, please visit these websites:

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.