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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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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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