Adie Syndrome

Adie Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Adie 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

  • Adie's Pupil
  • Adie's Syndrome
  • Adie's Tonic Pupil
  • Holmes-Adie Syndrome
  • Papillotonic Psuedotabes
  • Tonic Pupil Syndrome

Disorder Subdivisions

  • None

General Discussion

Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is dilated (larger than normal) and slow to react to light on nearby objects. In some patients, however, the pupil may be constricted (smaller than normal) rather than dilated. Absent or poor reflexes are also associated with this disorder. Adie Syndrome is neither progressive nor life threatening, nor is it disabling.

Symptoms

Adie Syndrome is a rare neurological disorder usually affecting the pupil of one eye or occasionally both eyes. Normally the pupil constricts (gets smaller) in the presence of bright light or when focusing on nearby objects. The pupil normally dilates (opens wider) in dim light or darkness, when focusing on far away objects, or when a person is excited. In Adie Syndrome these normal reactions to light and darkness do not occur.



In most patients with Adie Syndrome the affected pupil is larger than normal (dilated) all the time and does not constrict very much or at all in response to light. The pupil constricts slowly when focusing on objects close to view. In some patients with Adie's Syndrome, however, the opposite is true; the pupil remains smaller than normal (constricted) all the time. The majority of patients with Adie Syndrome have absent or poor reflexes as well. Headache, facial pain, blurry vision, or emotional fluctuations may occur in some patients. The disorder is not progressive and does not ordinarily cause severe disability. In Adie Syndrome, muscles which cause the pupil of the eye to dilate or contract, remains tensed (tonic), thereby creating the symptoms. Lesions to a certain part of the third nerve cells may cause the lack of reflexes. Scientists have identified lesions in certain nerves in some patients, but do not know what causes them to occur.

Causes

Although the exact cause of Adie Syndrome is unknown, it may be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interactions of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. It occurs in both males and females but most often in females between the ages of 25 to 45.

Standard Therapies

Diagnosis of Adie Syndrome can be made by using dilute pilocarpine, a drug in the form of eye drops, to test the pupil's reaction to light. The Adie Syndrome pupil, which does not constrict in response to light, will constrict in response to dilute pilocarpine.



Glasses may be prescribed to correct blurred vision. Therapy using dilute pilocarpine may improve poor depth perception (stereoacuity) in some patients.



Genetic counseling may be of benefit for parents and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Research of Adie Syndrome is ongoing. Scientists are trying to identify the underlying cause of the disorder so that better treatments may be developed.



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 web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the 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

TEXTBOOKS

Bennett JC, Plum F, Eds. Cecil Textbook of Medicine, 20th ed. W.B. Saunders Co.1996:2009-2010.



Beers MH, Berkow R, Eds. The Merck Manual, 17th ed. Merck Research Laboratories. 1999:1454.



JOURNAL ARTICLES

Martinelli P, Minardi C, Ciucci G, Dalpozzo F, Giuliani S, Scaglione C. Neurophysiological evaluation of areflexia in Holmes-Adie syndrome. Neurophysiol Clin. 1999;29(3):255-62.



Jacobson DM, Vierkant RA. Comparison of cholinergic supersensitivity in third nerve palsy and Adie's syndrome. J Neuroophthalmol. 1998;18(3):171-75.



Jacobson DM, Hiner BC. Asymptomatic autonomic and sweat dysfunction in patients with Adie's syndrome. J Neuroophthalmol.1998;18(2):143-47.



Bachmeyer C, Zuber M, Dupont S, Blanche P, Dhote R, Mas JL. Comparison of cholergenic supersensitivity in third nerve palsy and Adie's syndrome..J Neuroophthalmol. Sep 1998;18(3):171-75.



Adie syndrome as the initial sign of primary Sjogren syndrome. 1997;123(5):691-92.

Resources

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/



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.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/



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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