Adie syndrome

Title

Other Names:

Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes; Holmes-Adie syndrome; HAS; Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes; Holmes-Adie syndrome; HAS; Adie's Pupil See More

Categories:

Nervous System Diseases

Summary Summary

Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system.^[1]^[2] It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.^[1]^[2]^[3] In most cases, the cause of Adie syndrome is unknown.^[2]^[3] Some cases may result from trauma, surgery, lack of blood flow, or infection.^[2] Treatment may not be necessary. Glasses and eye drops may help when treatmend is needed.^[1]^[2]

The term Adie syndrome is used when both the pupil and deep tendon reflexes are affected. When only the pupil is affected, the disorder may be referred to as Adie's pupil.^[2]

Last updated: 2/16/2017

Symptoms Symptoms

Adie syndrome is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.^[1]^[2]^[3] It typically begins gradually in one eye, and often progresses to involve the other eye. At first, it may only cause the loss of deep tendon reflexes on one side of the body, but then progress to the other side. The eye and reflex symptoms may not appear at the same time.[1][2] People with Adie syndrome may also sweat excessively, sometimes only on one side of the body. The combination of these 3 symptoms – abnormal pupil size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors will still diagnosis the condition as a variant of Adie syndrome. Some individuals will also have cardiovascular abnormalities. The symptoms of Adie syndrome can appear on their own, or in association with other diseases of the nervous system, such as Sjogren syndrome or migraine.^[1]

Last updated: 2/16/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal dominant inheritance	-
Hyporeflexia	-
Tonic pupil	-

Last updated: 8/1/2017

Cause Cause

In most cases, the cause of Adie syndrome is unknown (idiopathic).^[2]^[3] The tonic pupil in Adie syndrome is believed to result from inflammation or damage to the ciliary ganglion (a cluster of nerve cells found behind the eye) or damage to the post-ganglionic nerves. The ciliary ganglion is part of the parasympathetic nervous system, a component of the autonomic nervous system. It helps control the pupil's response to light and other stimuli.^[2] In most cases, damage to the ciliary ganglion or post-ganglionic nerves is caused by an infection.^[1]^[2] Damage may also result from autoimmune processes, tumors, trauma, and complications of surgery.^[2]

The loss of deep tendon reflexes in Adie syndrome is believed to be caused by damage to the dorsal root ganglion, a cluster of nerve cells in the root of the spinal nerves.^[2]

In rare cases, Adie syndrome may be inherited.^[1] In these cases, it appears to follow an autosomal dominant pattern of inheritance.^[4]

Last updated: 2/16/2017

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Doctors may prescribe reading glasses to compensate for impaired vision in the affected eye, and pilocarpine drops to be applied 3 times daily to constrict the dilated pupil. This may help with depth perception and reduce glare. For many, these strategies improve vision.^[1]^[2] Thoracic sympathectomy, which severs the involved sympathetic nerve, is the definitive treatment for excessive sweating.^[1]

Last updated: 2/16/2017

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you. To find this trial, click on the link above.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Autonomic Society
18915 Inca Ave
Lakeville, MN 55044
Telephone: 952-469-5837
E-mail: http://americanautonomicsociety.org/contact/
Website: http://americanautonomicsociety.org/
European Federation of Autonomic Nervous System Societies
Via Ugo Foscolo, 7
Bologna, 40123 Italy
Telephone: +390512092929
Website: http://www.efasweb.com/efas/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Adie syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My son has been diagnosed with Adie syndrome. Can this condition be cured? How might it be treated? See answer

Have a question? Contact a GARD Information Specialist.

References References

Holmes-Adie syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Holmes-Adie-syndrome-Information-Page. Accessed 2/13/2017.
Wilhelm H. Adie Syndrome. National Organization for Rare Disorders (NORD). 2016; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Adie%20Syndrome.
Colak S, Erdogan MO, Senel A, Kibici O, Karaboga T, Afacan MA, Akdemir HU. A Rare Case in the Emergency Department: Holmes-Adie Syndrome. Turk J Emerg Med. 2016 Mar 2; 15(1):40-42. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909970/.
Adie Pupil. Online Mendelian Inheritance in Man (OMIM). November 16, 2010; http://omim.org/entry/103100.