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$Unique_ID{BRK03428}
$Pretitle{}
$Title{Adie Syndrome}
$Subject{Adie Syndrome Adie's Tonic Pupil Holmes-Adie Syndrome Tonic Pupil
Syndrome Adie's Syndrome Papillotonic Psuedotabes Adie's Pupil Third Nerve
Lesions Peripheral Neuropathy Transdermal Scopolamine}
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Copyright (C) 1991 National Organization for Rare Disorders, Inc.

825:
Adie Syndrome

** IMPORTANT **
It is possible that the main title of the article (Adie Syndrome) is not
the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

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

Information on the following disorders can be found in the Related
Disorders section of this report:

     Third Nerve Lesions
     Peripheral Neuropathy
     Transdermal Scopolamine

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Adie Syndrome is a rare neurological disorder affecting the pupil of the
eye.  In most patients with Adie Syndrome, 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 not progressive, life threatening, nor does it cause
disability.

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 remain 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 appearance of
the disease.  The risk of transmitting the disorder from affected parent to
offspring is fifty percent for each pregnancy regardless of the sex of the
resulting child.

Affected Population

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.

Related Disorders

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.

Therapies:  Standard

Diagnosis of Adie Syndrome can be made by using dilute pilocarpine, a drug in
the form of eyedrops, 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.

Therapies:  Investigational

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

This disease entry is based upon medical information available through
February 1991.  Since NORD's resources are limited, it is 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.

Resources

For more information on Adie Syndrome, please contact:

     National Organization for Rare Disorders
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Eye Institute (NEI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

CECIL TEXTBOOK OF MEDICINE, 18th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1988.  Pp. 2114-2115.

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick; John Hopkins
University Press, 1990.  Pp. 31.

ACCOMMODATIVE FLUCTUATIONS IN ADIE'S SYNDROME.  K. Ukai and S. Ishikawa;
Ophthalmic Physiol Opt (Jan 1989; issue 9 (1)).  Pp. 76-78.

MIOTIC ADIE'S PUPILS.  M. L. Rosenberg; J Clin Neuro Ophthalmol (Mar
1989; issue 9 (1)).  Pp.43-45.

ON THE CAUSE OF HYPOREFLEXIA IN THE HOLMES-ADIE SYNDROME.  J. M.
Miyasaki, et al.; Neurology (Feb 1988; issue 38 (2)).  Pp. 262-265.

THE THERAPY OF ADIE'S SYNDROME WITH DILUTE PILOCARPINE HYDROCHLORIDE
SOLUTIONS.  A. J. Flach and B. J. Dolan; J Ocul Pharmacol (Winter 1985; issue
1 (4)).  Pp. 353-362.