Duane retraction syndrome

Duane Retraction Syndrome (DRS) Overview

Duane retraction syndrome (DRS), also known as Stilling-Turk-Duane syndrome, is a congenital and non-progressive strabismus syndrome characterized by some or all of the following:

• Complete or partial absence of abduction
• Retraction of the globe on adduction

This condition affects the horizontal eye movement, resulting in limited outward movement of the eye. The symptoms are present since birth and do not progress over time.

Key Features

• Congenital and non-progressive strabismus syndrome
• Limited horizontal eye movement
• Globe retraction on attempted adduction
• Narrowing of the palpebral fissure

Types of Duane Syndrome

There are three types of Duane syndrome, which vary by the severity of restricted eye movements:

1. Type 1: The most common form, accounting for about 78% of all cases.
2. Type 2: Less severe than Type 1, with some residual abduction.
3. Type 3: The least severe, with minimal or no restriction in horizontal eye movement.

Causes and Associations

Duane syndrome is caused by the absence or partial development of the abducent nucleus and nerve (cranial nerve VI), leading to aberrant innervation of the lateral rectus muscle. This condition is part of a group of eye diseases called Congenital Cranial Dysinnervation Disorders (CCDDs). Some people with Duane syndrome may develop "lazy eye" (amblyopia) due to vision loss in the affected eye.

References

• [1] Duane retraction syndrome (DRS) is a unique restrictive type of strabismus characterized by co-contraction of the medial and lateral rectus muscles due to anomalous innervation of one of the extraocular muscles.
• [3] There are different types of Duane syndrome: type 1, type 2, and type 3.
• [10] Duane retraction syndrome (DRS), previously known as Stilling-Turk-Duane syndrome, is caused by the absence or partial development of the abducent nucleus and nerve.
• [12] Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure.

Signs and Symptoms of Duane Retraction Syndrome

Duane retraction syndrome (DRS) is a rare form of strabismus characterized by limited horizontal eye movement, globe retraction, and palpebral fissure narrowing. The signs and symptoms of DRS can vary based on the patient, the type of DRS, and which eye(s) are affected.

Common Signs and Symptoms:

• Limited Horizontal Eye Movement: One or both eyes may have difficulty moving outward towards the ear.
• Globe Retraction: When attempting to move the eye inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows.
• Droopy Eyelid: Congenital ptosis, a droopy eyelid present from birth, can be a sign of DRS.
• Abduction Limitation: Complete or partial absence of abduction, which is the movement of the eye outward towards the ear.

Other Possible Signs and Symptoms:

• Retraction of globe on attempted adduction
• Limited elevation or depression of the eye
• Narrowing of the palpebral fissure

These signs and symptoms can occur in isolation or as part of a larger syndrome. It's essential to consult with an eye care professional for a proper diagnosis and treatment plan.

References:

[1] Kekunnaya R, Negalur M. Duane retraction syndrome: causes, effects and management strategies. Clin Ophthalmol. 2017 Oct;Volume 11:1917–30. [2] Parsa CF, Robert MP. Thromboembolism and Congenital Malformations: From Duane ... [3] [8] by R Kekunnaya · 2017 · Cited by 60 — It consists of variable amounts of limitation of elevation or depression with globe retraction and palpebral fissure narrowing. [4] A rare, ocular congenital cranial dysinnervation disorder characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure ...

Diagnostic Tests for Duane Retraction Syndrome

Duane retraction syndrome (DRS) can be diagnosed through a combination of clinical evaluation and various diagnostic tests.

• Clinical Evaluation: The diagnosis of DRS is usually made based on the patient's clinical presentation, which includes limited horizontal eye movement, globe retraction, and narrowing of the palpebral fissure. A thorough ophthalmological examination is essential to confirm the diagnosis.
• Electrophysiological Tests: Electrophysiological tests such as electro-oculography (EOG) can be used to assess the function of the extraocular muscles and the integrity of the cranial nerves.
• Neuro-imaging: Neuro-imaging studies like magnetic resonance imaging (MRI) or computed tomography (CT) scans may be performed to rule out other conditions that could cause similar symptoms, such as tumors or vascular malformations.
• Chromosomal Analysis: Chromosomal analysis may be conducted in cases where there is a suspicion of a genetic disorder.

Additional Diagnostic Tests

Other diagnostic tests that may be used to aid in the diagnosis of DRS include:

• Cover Test: The cover test can be performed to assess for strabismus and to determine if there is any pattern strabismus.
• Force Generation Test: This test can help determine the amount of active force generated by the lateral rectus muscle.

Diagnostic Teams

A diagnostic team for DRS may include:

• Genetics: Genetic testing may be pursued if familial inheritance is suspected.
• Neurology: Neurological evaluation to assess for any neurological abnormalities.
• Ophthalmology: Ophthalmological examination to confirm the diagnosis and rule out other eye-related conditions.

References

[3] The force generation test can also be very useful in helping to determine the amount of active force generated by the lateral rectus. [10] Duane retraction syndrome (DRS), previously known as Stilling-Turk

Treatment Options for Duane Retraction Syndrome

Duane retraction syndrome (DRS) is a congenital strabismus condition that can be challenging to treat. While there are no definitive cures, various treatment options can help manage the symptoms and improve quality of life.

• Nonsurgical Treatment: In some cases, nonsurgical treatment may be recommended, especially if amblyopia (lazy eye) is present. This may involve treating amblyopia with patching or other therapies.
• Prism Therapy: Prisms can be prescribed to normalize head posture or manage intermittent diplopia (double vision). However, this treatment is not always effective and may require ongoing adjustments.
• Surgical Treatment: Surgery is often the most effective way to treat DRS. The goal of surgery is to eliminate or improve an unacceptable head turn. Surgical options include:
  • Unilateral Rectus Muscle Recession: This procedure involves shortening one or more rectus muscles to improve alignment and reduce head turning.
  • Other Surgical Procedures: Other surgical procedures, such as recession of the medial rectus muscle or advancement of the lateral rectus muscle, may also be considered on a case-by-case basis.

Emerging Treatments

Recent studies have explored the use of botulinum toxin-A (BTX) injections as a primary treatment for esotropic DRS in children. BTX injections can help relax the muscles and improve alignment. However, more research is needed to fully understand the efficacy and long-term effects of this treatment.

References

• [3] A simplified approach to the treatment of Duane’s syndrome.
• [4] Standard management of Duane syndrome (DS) may involve surgery.
• [6] To evaluate the efficacy of botulinum toxin injection in the patients with type 1 Duane syndrome and identify the predictive factors for success.
• [14] Unilateral rectus muscle recession in the treatment of Duane syndrome.