Skip to Main Content

At a glance

A neurologic phenomenon in which one or less commonly both pupils are dilated and respond either slowly or not at all to light. It can be associated with autonomic nervous system instability (syncope, vagal hyporeflexia, postural hypotension), slow gastric emptying, and tendon hyporeflexia.

Synonyms

Holmes-Adie Syndrome; Adie Pupil; Constitutional Areflexia-Iridoplegia Interna; Myotonic Pupil; Myotonic Pupillary Reaction; Pseudo-Argyll Robertson Syndrome; Weill-Reys Syndrome; Saenger Syndrome.

History

Described in 1931 by Douglas Moray Cooper Lamb Argyll Robertson, a Scottish ophthalmic surgeon. However, the phenomenon was already mentioned earlier by many others (as reflected in the number of synonyms). The English neurologist John Hughlings Jackson described it in 1881 and the three German physicians Max Nonne, Julius Strasburger, and Alfred Saenger described it in 1902. The two French physicians Georges Weill and Louis Reys were probably the first to describe this disease as its own (non-syphilitic) entity in 1926. The British physician William John Adie described the phenomenon correctly as an autonomous nervous system disease in 1931. In the same year, the Irish neurologist Gordon Morgan Holmes published a case series of 19 patients.

Incidence

The incidence has been estimated at approximately 5 in 100,000.

Genetic inheritance

AS is most frequently sporadic, but familial cases with autosomal dominant inheritance have been reported.

Diagnosis

The following signs are critical for the diagnosis: (a) either uni- or bilateral pupillotonia (ie, the pupil[s] is[are] dilated and the reaction to light is either entirely absent, or tonic and sluggish, sometimes with segmental “vermiform” movements) with (b) light-near dissociation (ie, the pupillary reflex response to light is abnormal, but the near accommodation response is still intact, although sometimes slow), and (c) hypoactive or absent tendon reflexes (with the Achilles tendon reflex being most frequently affected). Electrophysiological and neuroanatomical studies suggest that areflexia is the result of impaired spinal monosynaptic connections. The combination of AS, diminished or absent deep tendon reflexes and abnormal sweating is dubbed Holmes-Adie Syndrome by some authors.

Clinical aspects

The etiology of AS is presumed to be either idiopathic or autoimmune, but may also occur secondary to other disorders, such as viral infections, trauma, tumors, diabetes mellitus, syphilis, vascular lesions with ischemia, autonomic neuropathies, polyneuropathies (hereditary, paraneoplastic, amyloidotic, alcoholic), and autoimmune diseases (eg, ☞Sjøgren Syndrome, rheumatoid arthritis, giant-cell arteritis). Sporadic reports have described an association with myopathy and migraine. In some patients, initially unilateral involvement can later on progress to bilateral disease. AS may present at any age and in both genders, but is more common in young (third decade of life) women. The patients may complain about reading difficulties and/or photophobia. One theory regarding pathogenesis suggests that injury to or antibodies against the ciliary ganglion or the short ciliary nerves lead to partial ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.