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Disease Profile

Adie syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

US Estimated

Europe Estimated

Age of onset

Adult

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ICD-10

H57.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes; Holmes-Adie syndrome; HAS;

Categories

Nervous System Diseases

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]

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

 0001265
Tonic pupil
0012074
Do you have updated information on this disease? We want to hear from you.

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] 

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

    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] 

    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

      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

        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.

          References

          1. 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.
          2. Wilhelm H. Adie Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/adie-syndrome.
          3. 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/.
          4. Adie Pupil. Online Mendelian Inheritance in Man (OMIM). November 16, 2010; https://omim.org/entry/103100.

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