Doctors - Optic Nerve Hypoplasia (ONH)

This page has been adapted from the Blind Babies Fact Sheet located at www.blindbabies.org.
Optic Nerve Hypoplasia (ONH)

Introduction
Disorder Information
Symptoms
Behaviors
Treatment
Research
Links

Introduction

Optic Nerve Hypoplasia (ONH) refers to the underdevelopment of the optic nerve during pregnancy. The dying back of optic nerve fibers as the child develops in utero is a natural process, and ONH may be an exaggeration of that process. ONH may occur infrequently in one eye (unilateral) but more commonly in both eyes (bilateral). ONH is not progressive, is not inherited, and cannot be cured. ONH is one of the three most common causes of visual impairment in children.

Disorder Information

In most cases there is no known cause of ONH. Infrequently ONH has been associated with maternal diabetes, maternal alcohol abuse, maternal use of anti-epileptic drugs, and young maternal age (20 years of age or less), but these factors account for very few of the total number of cases. All races and socioeconomic groups seem to be affected by ONH.

Symptoms

ONH may occur by itself or along with neurological or hormonal abnormalities. Hormonal problems not apparent in early life may appear later.

Children with ONH demonstrate a wide spectrum of visual function ranging from normal visual acuity to no light perception. The effect on the visual field may range from generalized loss of detailed vision in both central and peripheral fields (depressed visual fields) to subtle peripheral field loss.

A high percentage of children with ONH have associated involuntary rhythmic movements of the eye (nystagmus). In most cases, the nystagmus is associated with significant bilateral reduced visual acuity.

ONH is a stable condition. Visual function does not deteriorate with time. A mild improvement in visual function may occur as the result of maturation processes of the brain. In some cases, reduced nystagmus may also occur.

Depth perception may be more severe if vision loss is great.

Mild light sensitivity (photophobia) may occur.

Associated brain and hormonal abnormalities are common in children with nystagmus and bilateral severe vision loss, and are less common in cases where vision loss is mild or unilateral. Abnormalities include: Midline anomalies of the brain: septo optic dysplasia (absence of the septum pellucidum and the corpus callosum), encephaloceles, anomalies of the ventricles, anencephaly, cerebral atrophy, and rarely, tumors. Hormonal insufficiencies: thyroid, growth hormone, pituitary, adrenal, anti-diuretic hormone (ADH). Associated midline brain anomalies can be identified by either an MRI or CT scan. Hormonal insufficiencies require an examination by a specialist in hormonal disorders (pediatric endocrinologist). Children particularly at risk for having associated hormonal insufficiencies are those who had neonatal low blood sugar (hypoglycemia), had prolonged jaundice (hyperbilirubinemia), failed to grow normally (failure to thrive), have difficulty regulating body temperature in connection with viral illnesses, and/or had a CT or MRI scan showing an absence of tissue connecting the brain to the pituitary gland (the pituitary stalk).

Behaviors

The child's vision is characterized by a lack of detail (depressed field), but this lack of detail is not comparable to the blurred reduction in vision when a person removes her glasses.

In certain cases of ONH a specific field defect occurs. Children may not be aware of people or objects in the periphery.

Children with ONH may be unable to locate objects in space precisely due to a lack of depth perception.

Some children with ONH have mild photophobia. These children may squint, lower their head, avoid light by turning away, or resist participating in outdoor activities.

When one eye is affected more than the other, an ophthalmologist may recommend a trial of patching the stronger eye, since the visual loss may be due to amblyopia.

Some feeding issues are associated with hormonal problems. Lack of interest in eating may be due to absent or diminished sense of smell and taste. Children with ONH may have very restricted food preferences. Some children exhibit excessive lip smacking while eating.

Behaviors of some children with ONH may be due to associated medical conditions, such as inattentiveness and irritability due to low blood sugar levels (hypoglycemia).

The child with associated central nervous system problems may be easily distracted, quickly frustrated and act in a disorganized or an impulsive way.

Treatment

Research

PubMed Journal Search

Links

The links below are the sources of our information and additional pages that you may find helpful.
Blind Babies Foundation Fact Sheet
The Doctor is In: Optic Nerve Hypoplasia
ONH FAQs - Focus Families
Handbook of Ocular Disease Management
What is Optic Nerve Hypoplasia?

ACKNOWLEDGMENTS
Julie Bernas-Pierce, Editor
Janice Polizzi
Colette Altmann
Barb Lee
Dr. Greig Hoyt
Home Counselors
Dennak Murphy
Dr. William Good
Ann Silverrain

Off to a Good Start Program

The Pediatric Visual Diagnosis Fact Sheets are sponsored by a grant from the Blind Children's Center and with support from the Hilton/Perkins through a grant from the Conrad Hilton Foundation of Reno, Nevada
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