National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Adie Syndrome is not the name you expected.
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.
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.
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.
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.
Symptoms of the following disorders can be similar to those of Adie Syndrome. Comparisons may be useful for a differential diagnosis:
Third nerve lesions can cause a dilated pupil, tests can determine whether the dilation is due to Adie Syndrome or to a lesion of the third nerve unrelated to Adie Syndrome.
Peripheral Neuropathy may cause an unreactive pupil, as may certain other disorders. The symptoms of Peripheral Neuropathy are produced by disease of a single nerve, or many nerves simultaneously. These symptoms may involve sensory, motor, reflex, or blood vessel function. Lesions, usually degenerative, may occur in the nerve roots or peripheral nerves. (For more information on this disorder, choose "peripheral neuropathy" as your search term in the Rare Disease Database.)
Aside from diseases many other factors can cause pupil dilation. Certain drugs can cause the pupil to dilate. For example, transdermal scopolamine is a drug for motion sickness which comes in the form of a patch. If a patient accidentally gets the product in his or her eye (e.g., not washing the hands when finished with the kit) this may cause a dilated pupil. Other drugs can cause dilated pupils or a delay in the response of eye muscles to light and darkness.
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.
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
For information about clinical trials sponsored by private sources, contact:
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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.
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Last Updated: 8/8/2007
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