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    Lenz Microphthalmia Syndrome

    Important
    It is possible that the main title of the report Lenz Microphthalmia Syndrome 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

    • MAA
    • Lenz dysmorphogenetic syndrome
    • Lenz dysplasia
    • Lenz syndrome
    • microphthalmia or anophthalmos with associated anomalies (obsolete)

    Disorder Subdivisions

    • None

    General Discussion

    Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case.

    Lenz microphthalmia syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, and/or malformations of the fingers and/or toes.

    BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.

    Resources

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    International Children's Anophthalmia Network (ICAN)
    c/o Center for Devel Medicine & Genetics
    5501 Old York Road
    Genetics Levy 2 West
    Philadelphia, PA 19141
    USA
    Tel: (215)456-8722
    Fax: (215)456-2356
    Tel: (800)580-4226
    Email: ican@anophthalmia.org
    Internet: http://www.anophthalmia.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 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/

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    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: 3/27/2012
    Copyright 1996, 1997, 2000, 2004, 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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