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Optic Nerve Hypoplasia

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Optic Nerve Hypoplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • SOD
  • ONH
  • septooptic dysplasia
  • DeMorsier syndrome

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.

Resources

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
Internet: 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
Internet: http://www.magicfoundation.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
TDD: (800)683-5551
Email: info@FightBlindness.org
Internet: http://www.blindness.org/

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

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
Internet: http://www.napvi.org

National Federation of the Blind
200 East Wells Street
at Jernigan Place
Baltimore, MD 21230
USA
Tel: (410)659-9314
Fax: (410)685-5653
Email: nfb@nfb.org
Internet: http://www.nfb.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
TDD: (212)502-7662
Email: afbinfo@afb.net
Internet: http://www.afb.org

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: mailman@acb.org
Internet: http://www.acb.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
Internet: http://www.focusfamilies.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Blind Children's Center
4120 Marathon Street
Los Angeles, CA 90029-3584
USA
Tel: (323)664-2153
Fax: (323)665-3828
Tel: (800)222-3566
Email: info@blindchildrenscenter.org
Internet: http://www.blindchildrenscenter.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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/6/2012
Copyright  1988, 1989, 1997, 2005, 2009, 2012 National Organization for Rare Disorders, Inc.

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