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Optic Nerve Hypoplasia Pediatric Visual Diagnosis Fact Sheet™

Reprinted with permission from Blind Babies Foundation








Visual and Behavioral Characteristics

Conditions Associated With ONH

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:

  1. 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.
  2. 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).


The following statement are NOT TRUE according to current research:

Teaching Strategies


  1. Amblyopia: a reversible condition affecting visual acuity that can lead to loss of vision in an eye that is structurally capable of seeing.
  2. Anencephaly: a birth defect in which all but the most primitive part of the brain, spinal cord, and overlying bones of the skull are absent.
  3. Corpus Callosum: a mass of white matter that joins the cerebral hemispheres of the brain, allowing them to communicate with each other.
  4. Encephalocele: a birth defect in which the brain protrudes through an opening in the skull.
  5. Perinatal: describes the period between 28 weeks gestation through the first week following delivery.
  6. Radiographic: refers to a picture produced on a sensitive surface by a form of radiation other than light.
  7. Septo optic dysplasia: a syndrome which includes midline abnormalities of the brain and optic nerve hypoplasia.
  8. Visual Acuity: ability of the eye to see clearly (which can be measured specifically), to perceive objects and to see detail within central vision.


Borchert, M.S. An Inside Look At Optic Nerve Hypoplasia Research - A Leading Cause of Infant Blindness, USC School of Medicine.

Hoyt. C. (1986). Optic Nerve Hypoplasia: A Changing Perspective. Transactions of the New Orleans Academy of Ophthalmology. Raven Press, New York.

Lambert, S. & Hoyt, C. (1987). Optic Nerve Hypoplasia. Ophthalmology. 32, #1, July, August, 1-9.

Marsh-Tootle, W.L. (1994). Congenital Optic Nerve Hypoplasia: A Symposium Paper. Optometry & Vision Science. 71; #3, 174-180.

Tait, P. (1989). Optic Nerve Hypoplasia: A Review of the Literature, Journal of Visual Impairment and Blindness, April, 207-211.

Willnow, S. et al. (1996). Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)-evaluation and follow up of 18 patients. European Journal of Pediatrics, 155; 179-184.


Project Coordinators: Julie Bernas-Pierce, M.Ed. and Namita Jacob, Dr. Creig Hoyt, Nancy Akeson, Gail Calvello, Laila Adle, Carole Osselaer, Patricia Silva, Laura Davis. Reviewers: Kay Ferrell, Ph.D., Deborah Hatton, Ph.D., Kathryn Nael Manalo

The Pediatric Visual Diagnosis Fact Sheets are sponsored by a grant from the Blind Childrens Center and with support from the Hilton/Perkins Program through a grant from the Conrad Hilton Foundation of Reno, Nevada. REPRODUCTION FOR RESALE IS STRICTLY PROHIBITED (1/98 BBF)

Blind Babies Foundation
1200 Gough Street
San Francisco, California 94109
(415) 771-5464

Editor's note: Blind Babies Foundation has developed 7 Pediatric Visual Diagnosis Fact SheetsTM on the following topics: Cortical Visual Impairment, Retinopathy of Prematurity, Optic Nerve Hypoplasia, Albinism, Optic Nerve Atrophy, Retinal Diseases, and Vision Assessment. One complete set costs $10. Families can get one Fact Sheet free of charge upon request. The Blind Childrens Center will have the Fact Sheets available soon on their website at www.blindcntr.org/bbc.



Last Revision: October 31, 2005