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Duane Retraction Syndrome

Disease Details

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Description: Duane Retraction Syndrome (DRS) is a rare congenital eye movement disorder characterized by limited horizontal eye movement and globe retraction with narrowing of the palpebral fissure on attempted adduction.
Type: Duane Retraction Syndrome (DRS) is most commonly sporadic, but it can also be inherited in an autosomal dominant pattern.
Signs And Symptoms: **Signs and Symptoms of Duane Retraction Syndrome:**

1. **Limited Eye Movement:** Inability to move one or both eyes outward (abduction) or, less commonly, inward (adduction).
2. **Retraction:** The affected eye may pull back into the socket when attempting to adduct.
3. **Narrowing of the Palpebral Fissure:** The space between the upper and lower eyelids narrows when the eye turns inward.
4. **Eye Misalignment (Strabismus):** The eyes may be misaligned, with one eye turning in (esotropia) or outward (exotropia).
5. **Head Positioning:** Individuals may turn or tilt their head to use their eyes more effectively and reduce double vision.
6. **Reduced Vision:** In some cases, there may be reduced vision in the affected eye.

**N/A (nan):** No additional information provided.
Prognosis: Duane Retraction Syndrome (DRS) generally has a good prognosis in terms of vision and quality of life. While there is currently no cure for DRS, many individuals can manage their symptoms through non-surgical means such as glasses or prism lenses to correct refractive errors or mild strabismus. In some cases, surgery may be performed to improve eye alignment and reduce abnormal head positions. Regular monitoring by an eye specialist is recommended to address any changes in eye function and to optimize management strategies.
Onset: The onset of Duane Retraction Syndrome (DRS) typically occurs at birth. It is a congenital condition present from birth and is usually diagnosed in early childhood.
Prevalence: The prevalence of Duane Retraction Syndrome (DRS) is estimated to be approximately 1 in 1,000 to 1 in 10,000 individuals. It is a congenital eye movement disorder that typically presents at birth or in early childhood.
Epidemiology: Most patients are diagnosed by the age of 10 years and Duane's is more common in girls (60 percent of the cases) than boys (40 percent of the cases). A French study reports that this syndrome accounts for 1.9% of the population of strabismic patients, 53.5% of patients are female, is unilateral in 78% of cases, and the left eye (71.9%) is affected more frequently than the right. Around 10–20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome. Duane syndrome has no particular race predilection.
Intractability: Duane Retraction Syndrome (DRS) is not considered intractable, but it can be challenging to manage. Treatment options, such as vision therapy, corrective glasses, or surgery, can help improve symptoms and eye alignment. The syndrome is congenital and there is no cure, but many individuals can achieve functional vision with appropriate interventions.
Disease Severity: Duane Retraction Syndrome (DRS) is a congenital eye movement disorder characterized by the inability of the eye to move outward (abduction) or, less commonly, inward (adduction). The severity of the disease can vary depending on the individual, ranging from mild to more severe cases that can affect vision and eye alignment. The exact cause of DRS is not fully understood, but it is thought to involve the improper development of certain cranial nerves.
Healthcare Professionals: Disease Ontology ID - DOID:12557
Pathophysiology: Duane Retraction Syndrome (DRS) is a congenital eye movement disorder characterized by the improper development of the sixth cranial nerve (abducens nerve), which controls the lateral rectus muscle. The pathophysiology involves malfunctions in this nerve, leading to the inability of the affected eye to move outward properly (abduction). Additionally, there may be co-contraction of both the lateral and medial rectus muscles when attempting to move the eye inward (adduction), causing the globe to retract and the eyelids to narrow. This abnormal movement pattern results in restricted eye movements and possible compensatory head posture to maintain binocular vision. It is typically unilateral and can present with varying degrees of severity.
Carrier Status: Duane Retraction Syndrome (DRS) is typically not associated with a carrier status in the way that some genetic conditions are. It is a rare, congenital eye movement disorder that results from the miswiring of the eye muscles. Though most cases are sporadic and occur without a family history, some familial cases suggest an autosomal dominant pattern of inheritance. However, there is no common carrier status like those found in recessive genetic diseases.
Mechanism: Duane retraction syndrome (DRS) is a congenital eye movement disorder caused by the misinnervation of the lateral rectus muscle, which normally controls outward eye movement.

**Mechanism:**
1. **Nerve Misinnervation**: The abducens nerve (cranial nerve VI), which normally innervates the lateral rectus muscle, is either absent or hypoplastic. The lateral rectus muscle is instead innervated by a branch of the oculomotor nerve (cranial nerve III), which is meant to control the medial rectus muscle.
2. **Aberrant Muscle Contraction**: This inappropriate innervation causes the lateral rectus muscle to contract simultaneously with the medial rectus muscle, leading to restricted outward movement (abduction) and sometimes inward movement (adduction) of the affected eye. This results in the hallmark retraction (pulling back) of the eye into the orbit and narrowing of the palpebral fissure when the eye tries to move inward.

**Molecular Mechanisms:**
1. **Genetic Factors**: Mutations in genes such as CHN1, which encodes the alpha-2-chimaerin protein, have been implicated in some families with DRS. Alpha-2-chimaerin is involved in axonal guidance and the development of the cranial nerves.
2. **Neurodevelopmental Pathways**: Disruption in the signaling pathways that are critical for the development and guidance of the sixth cranial nerve and proper neuromuscular connections can lead to the miswiring observed in DRS. The exact molecular pathways involved remain a subject of research.
3. **Environmental Influences**: There may also be non-genetic factors contributing to the development of DRS, including prenatal environmental exposures that disrupt normal neuronal development and connectivity.

The interplay between genetic predispositions and developmental anomalies underlies the aberrant nerve-muscle connections seen in Duane retraction syndrome.
Treatment: The majority of patients remain symptom free and able to maintain binocularity with only a slight face turn. Amblyopia is uncommon and, where present, rarely dense. This can be treated with occlusion, and any refractive error can also be corrected.
Duane syndrome cannot be cured, as the "missing" cranial nerve cannot be replaced, and traditionally there has been no expectation that surgery will result in any increase in the range of eye movement. Surgical intervention, therefore, has only been recommended where the patient is unable to maintain binocularity, where they are experiencing symptoms, or where they are forced to adopt a cosmetically unsightly or uncomfortable head posture in order to maintain binocularity. The aims of surgery are to place the eye in a more central position and, thus, place the field of binocularity more centrally also, and to overcome or reduce the need for the adoption of an abnormal head posture. Occasionally, surgery is not needed during childhood, but becomes appropriate later in life, as head position changes (presumably due to progressive muscle contracture).Surgical approaches include:

Medial rectus recession in the involved eye or both eyes. By weakening the medial rectus muscles this procedure improves the crossed-eye appearance but does not improve outward eye movements (abductions).
Morad et al. showed improved abduction after modest unilateral medial rectus recession and lateral rectus resection in a subgroup of patients with mild eye retraction and good adduction before surgery.
Lateral transposition of the vertical muscles described by Rosenbaum has been shown to improve range of movement of the eye. The surgical procedure produces 40-65 degrees of binocular field. Orbital wall fixation of the lateral rectus muscle (muscle is disinserted and reattached to lateral orbital wall) is recommended an effective method to inactivate a lateral rectus muscle in cases of marked anomalous innervation and severe cocontraction.
Compassionate Use Treatment: Duane Retraction Syndrome (DRS) primarily involves congenital eye movement disorders, and treatment typically focuses on managing symptoms and improving eye function. As of now, there are no specific compassionate use treatments or widely recognized off-label or experimental treatments specifically for DRS.

Management usually involves non-surgical methods like corrective glasses with prisms or patching. In some cases, surgical options may be considered to correct the misalignment of the eyes. It’s always best to consult an ophthalmologist or a pediatric eye specialist for the most current and personalized treatment options.
Lifestyle Recommendations: For Duane Retraction Syndrome, here are some lifestyle recommendations:

1. **Regular Eye Check-ups**: Frequent visits to an ophthalmologist to monitor and manage the condition.
2. **Head Positioning**: Adjusting head position when reading or watching TV to maintain comfortable vision.
3. **Visual Aids**: Using corrective lenses if prescribed by an eye specialist.
4. **Ergonomic Work Stations**: Ensuring computer screens and reading materials are at eye level to avoid straining the eyes and neck.
5. **Avoiding Eye Strain**: Taking regular breaks when doing tasks that require intense focus, like reading or using a computer.
6. **Physical Activities**: Engaging in physical activities that do not put excessive strain on the eyes or neck.
7. **Awareness in Daily Activities**: Being mindful of any activities that might exacerbate symptoms and finding ways to adapt.

Always consult healthcare providers for personalized advice and management plans.
Medication: Duane Retraction Syndrome (DRS) is a congenital eye movement disorder, and there isn't a medication specifically for treating the syndrome itself. Management generally involves observation, corrective lenses, or surgical intervention to address associated issues such as amblyopia (lazy eye) or strabismus (misalignment of the eyes). If there are secondary complications like eye strain or discomfort, these may be managed symptomatically.
Repurposable Drugs: Duane Retraction Syndrome (DRS) is a congenital eye movement disorder, and currently, there are no repurposable drugs specifically known for its treatment. Management typically involves non-pharmacological approaches such as corrective glasses, vision therapy, or surgical procedures to improve eye alignment and movement.
Metabolites: Duane retraction syndrome (DRS) primarily affects the eye muscles and nerves. Currently, there are no specific metabolites identified as directly related to this condition. It involves a miswiring of the nerves that control the lateral rectus muscle, leading to abnormal eye movement. Therefore, metabolite profiling is not typically relevant in understanding or diagnosing Duane retraction syndrome.
Nutraceuticals: There are no well-established or specific nutraceutical treatments for Duane Retraction Syndrome (DRS). This congenital eye movement disorder is primarily managed through ophthalmological and sometimes surgical interventions. Nutraceuticals, referring to foods or supplements that provide health benefits, have not been shown to significantly alter the course of DRS. Any treatment or management plan should be discussed with a healthcare professional specialized in eye conditions.
Peptides: Duane Retraction Syndrome (DRS) is a congenital eye movement disorder caused by abnormal development of the sixth cranial nerve, which controls the lateral rectus muscle for eye movement. Consequently, people with DRS have restricted or absent outward eye movement and abnormal inward movement of the affected eye. It's not primarily linked to peptides or nanotechnology in treatment or management; instead, it is usually managed through eye exercises, glasses, or sometimes surgery to improve eye alignment and movement.