Macular Degeneration

Macular Degeneration

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Macular Degeneration 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

  • Foveal Dystrophy, Progressive
  • Macula Lutea, degeneration
  • Macular Dystrophy
  • Tapetoretinal Degeneration

Disorder Subdivisions

  • Behr 1
  • Behr 2
  • Adult Macula Lutea Retinae Degeneration
  • Presenile Macula Lutea Retinae Degeneration
  • Stargardt's Disease (STGD)
  • Juvenile Macular Degeneration
  • Macular Degeneration, Senile
  • Macular Degeneration, Disciform

General Discussion

Macular degeneration is a degenerative disease affecting the macula or center of the retina of the eye. It results in progressive loss of central vision. Occurring most often among older people, it is the most common cause of vision loss in people over age 55. It is believed that both genetic and environmental factors influence this disease.

Symptoms

The development of this disease is usually gradual. The first sign may be a need for more light when reading or doing close work.



There are two types of macular degeneration: dry and wet. In most cases, the disease starts out as dry macular degeneration. Wet macular degeneration refers to leaking of fluid or blood from blood vessels under the macula.



Symptoms of dry macular degeneration may include a need for greater illumination when reading, difficulty recognizing faces, blurriness of printed words, and difficulty adjusting to dim lighting such as in restaurants.



Symptoms of wet macular degeneration may include loss of central vision and visual distortion. For instance, a straight line may appear wavy or a small object may seem to be farther away than it really is.



In either the wet or dry forms of the disease, one eye may seem to be affected while the other remains unaffected for a period of time. During that time, the healthier eye may compensate for the affected eye. However, in most cases, if one eye is affected the other eye will develop macular degeneration in time, too.



Macular degeneration doesn't cause total blindness. Peripheral vision may not be affected, but central vision, which is used for activities such as reading, watching television, and doing close work, is.



The retina is a thin lining of nerve tissue on the inside back wall of the eye. The macula is the center of the retina. It is the part of our vision process that makes possible recognizing faces, reading, and driving a car.

Causes

Light-sensing cells in the macula known as photoreceptors convert light into electrical impulses that are sent to the brain. When those photoreceptor cells degenerate, central vision loss occurs.



Early-onset forms of macular degeneration are genetic. Age-related macular degeneration is believed to be influenced by both genetic and environmental factors.



Although the exact cause of macular degeneration is now known, the following are considered risk factors for this disease: age (60 years or older), family history of the disease, obesity, cigarette smoking, and having light-colored eyes.

Affected Populations

Macular degeneration affects both males and females, although women appear to be more frequently affected by severe vision loss, perhaps because they live longer. It is the leading cause of blindness in adults over 55. Wet macular degeneration is the most severe form of the disease.

Standard Therapies

The U.S. Food and Drug Administration (FDA) has approved (April 2000) verteporfin (Visudyne), a type of photodynamic therapy, for treatment of the wet form of age-related macular degeneration. This is the first FDA approved treatment for wet macular degeneration. Photodynamic therapy involves the use of a light-activating drug in combination with a "cool" laser to destroy abnormal blood vessels with minimal damage to surrounding healthy tissue. Visudyne therapy cannot restore lost vision, but prevents further loss. Therefore, early diagnosis through regular ophthalmic examination is important.



Macugen, a drug that works by blocking vascular endothelial growth factor, a protein that promotes blood vessel growth, received approval from the FDA in 2005 for the treatment of wet (neovascular) age-related macular degeneration. The web form of macular degeneration is caused by the abnormal growth of fragile blood vessels in the retina that leak blood and cause damage to the light-sensitive photoreceptor cells. For information on Macugen, contact the American Health Assistance Foundation, a sponsor of research on age-related and degenerative diseases, at www.ahaf.org or (tollfree) 800-437-AHAF. Macugen is manufactured by Eyetech Pharmaceuticals, Inc., 3 Times Square, New York, NY, 10036; telephone: (212) 824-3400; www.eyetech.com.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For more information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the National Institutes of Health (NIH) Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov





For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

JOURNAL ARTICLES

Pennisi E. Gene found for the fading eyesight of old age. Science.1997; 277:1765.



Gerber S, et al. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1P13 Am J Hum Genet.1995;56:396-99.



Kaplan J, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nature Genet. 1993;5:308-11.



Moore AT, et al. Bilateral macular dysplasia (‘colobomata') and congenital retinal dystrophy. Br J Ophthalmol.1985:69(9):691-99.



Smiddy WE, et al. Comparison of krypton and argon laser photocoagulation. Results of stimulated clinical treatment of primate retina. Arch Ophthalmol. 1984:102(7):1086-92.



Dickman IR. A vision impairment of the later years: macular degeneration. Public Affairs Pamphlet No. 610 (Distributed as a public service by the American Foundation for the Blind).



FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM).Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 6/26/97, Entry Number 248200.

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



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/



Association for Macular Diseases, Inc.

210 E. 64th St.

8th Floor

New York, NY 10065

Tel: (212)605-3719

Fax: (212)605-3795

Email: association@retinal-research.org

Internet: http://www.macula.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/



American Health Assistance Foundation

22512 Gateway Center Drive

Clarksburg, MD 20871

USA

Fax: (301)948-4403

Tel: (800)437-2423

Email: info@ahaf.org

Internet: http://www.ahaf.org



Eye Cancer Foundation

115 East 61st Street, Suite 5B

New York, NY 10021

Tel: (212)832-7297

Fax: (212)888-4030

Email: contactus@eyecarefoundation.org

Internet: http://www.eyecarefoundation.org



MD Support - The Eyes of the Macular Degeneration Community

3600 Blue Ridge Blvd

Grandview, MO 64030

USA

Tel: (816)761-7080

Fax: (816)761-7080

Email: director@mdsupport.org

Internet: http://www.mdsupport.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/



Foundation Fighting Blindness (Canada)

890 Yonge Street, 12th Floor

Toronto, Ontario, M4W 3P4

Canada

Tel: 4163604200

Fax: 4163600060

Tel: 8004613331

Email: info@ffb.ca

Internet: http://www.ffb.ca



Macular Disease Society

PO Box 1870

Andover, SP10 9AD

United Kingdom

Tel: 01264350551

Fax: 01264350558

Email: info@macularsociety.org

Internet: http://www.macularsociety.org/



Retina International

Ausstellungsstrasse 36

CH-8005

Zürich,

Switzerland

Tel: 410444441077

Fax: 410444441070

Email: christina.fasser@retina-international.org

Internet: http://www.retina-international.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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