Optic Nerve Hypoplasia

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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.

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.

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.

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The Vision Center
Children's Hospital Los Angeles
4650 Sunset Boulevard, MS #88
Los Angeles, CA 90027