Optic Nerve Hypoplasia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Optic Nerve Hypoplasia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

The syndrome of optic nerve hypoplasia (ONH), also known as septooptic dysplasia (SOD) or DeMorsier syndrome, is a congenital disorder characterized by underdevelopment (hypoplasia) of the optic nerves. The optic nerves transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain. Children with ONH may have brain and pituitary malformations. Abnormalities of structures of the brain may include hypoplasia of the corpus callosum (nerve fibers that connect the two hemispheres of the brain), underdeveloped nerve fibers (white matter) in any other location, and abnormal migration of neurons to the surface of the brain (cortical heterotopia). A common association without any known functional consequence is absence of the septum pellucidum. Abnormal development of the hypothalamus at the base of the brain results in abnormal function of the pituitary gland with or without visible neuroradiographic abnormalities of the pituitary. The pituitary gland is a hormone-producing gland at the base of the brain that controls hormones in the body that are necessary for growth, energy, and sexual development.

Most people with ONH have abnormal eye movements (nystagmus) and vision can range from no light perception to good functional vision, or even full vision in one eye. Some affected children have normal intelligence and others have learning disabilities and developmental delays. Deficiencies of certain hormones may result in growth retardation, poor development, and may be life-threatening without treatment. Hormone deficiencies can be controlled with daily hormone replacement therapy and close monitoring by an endocrinologist (hormone doctor). The cause of ONH is not understood.

Supporting Organizations

American Council of the Blind

2200 Wilson Boulevard
Suite 650
Arlington, VA 22201
Tel: (202)467-5081
Fax: (202)465-5085
Tel: (800)424-8666
Email: info@acb.org
Website: http://www.acb.org/

American Foundation for the Blind

2 Penn Plaza
Suite 1102
New York, NY 10121
Tel: (212)502-7600
Fax: (888)545-8331
Tel: (800)232-5463
Email: afbinfo@afb.net
Website: http://www.afb.org

Blind Children's Center

4120 Marathon Street
Los Angeles, CA 90029-3584
Tel: (323)664-2153
Fax: (323)665-3828
Tel: (800)222-3566
Email: info@blindchildrenscenter.org
Website: http://www.blindchildrenscenter.org

FOCUS Families

2453 Emerald Street
San Diego, CA 92109
United States
Tel: (858)273-1473
Tel: (866)362-8750
Email: support_families@focusfamilies.org
Website: http://www.focusfamilies.org

Foundation Fighting Blindness

7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Tel: (410)423-0600
Fax: (410)872-0574
Tel: (800)683-5555
Email: info@FightBlindness.org
Website: http://www.blindness.org/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: mary@magicfoundation.org
Website: http://www.magicfoundation.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Website: http://www.napvi.org

National Federation of the Blind

200 East Wells Street
at Jernigan Place
Baltimore, MD 21230
Tel: (410)659-9314
Fax: (410)685-5653
Email: nfb@nfb.org
Website: http://www.nfb.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/12/2015
Copyright  2015 National Organization for Rare Disorders, Inc.