Continuing Education Activity

Apraxia of eyelid opening is defined as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally. There is an inability of voluntary eye reopening without an orbicularis oculi spasm despite sustained frontalis contraction. This activity describes the evaluation and management of apraxia of eyelid opening and reviews the role of the interprofessional team in improving care for patients with this condition.

Objectives:

• Identify the etiology and epidemiology of apraxia of lid opening.
• Review the appropriate evaluation of apraxia of lid opening.
• Outline the management options available for apraxia of lid opening.
• Summarize interprofessional team strategies for improving care coordination and communication to advance the care of apraxia of lid opening and improve outcomes.

Introduction

Apraxia of eyelid opening is defined as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally. There is an inability of voluntary eye reopening without an orbicularis oculi spasm despite sustained frontalis contraction. It is most commonly associated with blepharospasm (persistent focal dystonia, with eyelid muscle contraction). The definition is a misnomer, given that it is very rarely a pure and true apraxia.[1] Very rarely, it can occur as an isolated idiopathic phenomenon.

Max Heinrich Lewandowsky, a renowned German physician and academician, first described it in 1907 in his essay Über apraxie des Lidschlusses. Later, Schilder reported in 1927 two patients (one with Huntington's chorea) and Riese in 1930 one patient with frontotemporal injury from a bullet. No other reports are found in the literature until 1965 when Goldstein and Cogan reported four patients (Huntington's disease, parkinsonism, parkinsonian syndrome after cyanide attempted suicide, and cerebral diplegia).[2]

Etiology

The most common etiology of apraxia of eyelid opening is idiopathic focal dystonia. Other causes documented in the literature include:

• Blepharospasm or focal dystonia of the eyelids - idiopathic (also known as benign essential blepharospasm), infectious (keratitis, blepharitis, dacryocystitis, conjunctivitis), toxic exposure (extensive sunlight), autoimmune (keratoconjunctivitis sicca from Sjogren's disease), neurodegenerative (Parkinson's and Huntington's disease)
• Face or eyebrow ptosis - severe levator palpebrae dysfunction from abnormal development, vascular injury, neuromuscular disease (myasthenia gravis), neuroimmunological (multiple sclerosis), trauma, iatrogenic (eye surgery). Ptosis can easily be corrected by tightening the muscle's tendon that raises the eyelids.
• Dermatochalasis - refers to excess upper or lower eyelid skin, or both. This is merely baggy eyelids and can be fixed by removing the excess baggage and skin in the eyelids.
• Psychogenic- photophobia, fatigue

Epidemiology

The most common form of blepharospasm, benign essential blepharospasm, is the etiology where the epidemiology has been studied. The mean annual incidence is about 0.10%, with a peak incidence in the 50-60 year age group (0.19%). It is only slightly more prevalent in females (0.12%) than males (0.07%).[3] It can progress, and within a period of six months to three years, can lead to impairment of functional independence due to visual disability, job loss, and other quality of life measures.

Risk factors include a high level of urbanization and certain occupations. There are several co-morbidities associated, which include dyslipidemia, parasomnias, psychiatric (depression, anxiety, and obsessive-compulsive disorder), dry eye-related diseases (idiopathic or related to Sjögren's syndrome), and to a lesser degree, Parkinson's disease and rosacea.

Pathophysiology

The pathogenesis of apraxia of eyelid opening and blepharospasm is poorly understood, but there a few hypotheses based on animal model studies. Nigro-striatal basal ganglia pathways may project to the premotor control of eyelid coordination. Therefore, it is associated with dysfunction in the corticothalamic, basal ganglia, and focal cranial nerve circuitry.[4] Structures involved include sensorimotor cortical regions, substantia nigra pars reticulata, and brainstem motor nuclei (trigeminal blink reflex arc).

At the biochemical level, abnormal dopamine neurotransmission likely underlies the abnormal blinking and eyelid muscle contraction. Secondary causes of eyelid opening problems include neuromuscular junction diseases, neurodegenerative diseases, autoimmune disease, and ocular or central nervous system structural lesions.

History and Physical

Patients describe difficulty opening the eyes voluntarily and feeling persistent periorbital contractions. Most of the time, it occurs after the patient voluntarily closes the eyes. Patients show compensatory behaviors, which may include thrusting the head backward, manually opening the eyes with their fingers, and rubbing the eyebrows.

It is crucial to ascertain the historical progression of symptoms. A thorough past medical and ocular history may reveal risk factors associated with the condition. A focal ocular exam is essential, including visual acuity and field testing, ocular pressure testing, pupillary reflexes, extraocular movements, dilated fundoscopic examination, and slit-lamp examination. The examination can help narrow the etiology of the symptoms.

An external evaluation of the eyelids and facial muscles is essential to assess eyebrow and eyelid ptosis, dermatochalasis, and spasms of the orbicularis oculi, procerus, and corrugator muscles. Assessing mental status, language skills, and other cranial exams may be useful if central causes are suspected.

Evaluation

This condition is a clinical diagnosis; therefore, a thorough medical history and physical, ocular history and focused visual exam are essential. Historical inquiry of progression and risk factors can narrow the differential. There have been clinical criteria established by Defazio and Berardelli for the identification of clinical and physical exam phenomenology, with validation from expert neurologists and neuro-ophthalmologists.[5] These include: orbicularis oculi involuntary spastic eyelid narrowing/closure, bilateral laterality, synchronous spasm frequency, stereotypical spasm pattern, alleviation with a sensory trick, inability to suppress spasms, and high-frequency blink count at rest. A combination of them had a 93% sensitivity and 90% specificity for blepharospasm. A focal physical and ocular exam can help identify and confirm the clinical diagnosis.

If a central nervous system cause is suspected, a head computed tomographic (CT) scan or a brain magnetic resonance imaging (MRI) with and without contrast is performed.

Extensive serum laboratories and cerebrospinal fluid analysis, including systemic immune, autoimmune, and infectious causes, may be useful to exclude secondary causes of blepharospasm.

Treatment / Management

Botulinum toxin A is considered the first-line treatment.[6][7] Baggy eyelids (dermatochalasis) is repaired by removing the excess baggage and skin in the eyelids. Ptosis is corrected by tightening the muscle's tendon that raises the eyelids.

For refractory cases, myectomy with tightening of the levator tendon that elevates the eyelids (also called aponeurotic ptosis repair) and blepharoplasty can be considered. Myectomy of fibers of orbicularis muscle in the central portion of the eyelid can be performed if botulinum toxin does not produce good results. Frontalis suspension is performed as a last resort, by placing a suture between the forehead muscle and the eyelids.

Differential Diagnosis

Apraxia of eyelid opening, as a feature of blepharospasm, carries a complex differential diagnosis that is most consistent with late-onset dystonia phenomenon, affecting patients older than 50 years of age. Several disorders will present like apraxia of eyelid opening and must be excluded to treat them appropriately.

• Idiopathic
  • Benign essential blepharospasm with or without sensory features including eye-burning pain, keratoconjunctivitis sicca, sensory trick, and photophobia[8][9]
  • Meige's syndrome: a triad of blepharospasm, oromandibular dystonia, and cervical dystonia
  • Brueghel's syndrome: blepharospasm, oromandibular dystonia, +/- torticollis,  +/- dystonic writer's cramp, appendicular dystonic posturing of the arms, dystonic respiration, and spasmodic torticollis[10][11]
• Iatrogenic
  • Drug-induced: associated with tardive dyskinesias with use of mood stabilizers (antidepressants, antipsychotics, antiepileptics), antimicrobials, and antiarrhythmics[12]
  • Levodopa and apomorphine in progressive supranuclear palsy[13]
  • Deep brain stimulation on the subthalamic nucleus and the globus pallidus internus for Parkinson's disease patients[14][15]  
• Genetic
  • Primary blepharospasm and dystonias: they can be accompanied by cervical dystonia. Torsin family 1 member A polymorphism with mutation on dystonia 1 protein,[16][17][18] guanine nucleotide-binding protein,[19] anoctamin 3,[20] tubulin beta4A,[21] and zinc finger protein 1[16][22]
• Structural
  • Vascular or traumatic injury of the midbrain, basal ganglia, thalamus, cerebellum, and motor cortex[23]
  • Hemifacial spasm: spasmodic unilateral facial contractions including eyelid blepharospasm due to facial nerve irritation
• Neuroinflammatory
  • Bell's palsy: unilateral facial hemiparesis, constitutional symptoms (fever, chills), headaches, neck rigidity, retro auricular or jaw pain, hypersalivation, hyper acoustic phonophobia, dysgeusia, keratoconjunctivitis sicca
  • Myasthenia gravis: oculomotor fatigue[24][25]
• Neurodegenerative
  • Parkinson's disease[26][27] 
  • Focal, segmental or generalized dystonia: uncontrolled hyperkinetic movements, including blepharospasm

Prognosis

The prognosis is dependent on the chronicity, etiology, and responsiveness to the first-line treatment. Apraxia of lid opening may be challenging to treat in many cases. In general, responsiveness to treatment is a good prognostic factor, in terms of morbidity. Chronicity and refraction to treatment can lead to more disruption in functional independence and disability.

Complications

Treatments with botulinum toxin can produce uncommon and transient adverse side effects such as ptosis, blurry vision, and diplopia that spontaneously resolves in a few weeks.[26][27][28]

Consultations

• Neurologists
• Movement disorder specialists
• Social workers
• Case managers
• Occupational therapists

Deterrence and Patient Education

There are no avoidable factors to prevent the occurrence of apraxia of eyelid opening. The functional independence of the patient can be affected by unresponsiveness to treatment. Disability can occur from impairment in visual integrity, causing job loss and the performance of activities of daily living.

Treatment with botulinum toxin frequently produces good results, but complications from its use can occur. Patients should seek medical attention as apraxia of eyelid opening can be a symptom of numerous disorders that require additional treatments, including Parkinson's and Huntington's disease, myasthenia gravis, Sjogren's disease, multiple sclerosis, and psychiatric disorders.

Pearls and Other Issues

• Apraxia of eyelid opening is defined as a non-motor abnormality characterized by the patient's difficulty in eyelid elevation bilaterally.
• Commonly occurs after the patient voluntarily close the eyes.
• The definition is a misnomer, given that it is very rarely pure and true apraxia.
• It is associated with dysfunction in the corticothalamic, basal ganglia, and focal cranial nerve circuitry.
• Structures involved include sensorimotor cortical regions, substantia nigra pars reticulata, and brainstem motor nuclei.
• The most common etiology of apraxia of eyelid opening is idiopathic focal dystonia.
• Other causes include blepharospasm or focal dystonia of the eyelids, infectious, toxic exposure, autoimmune, neurodegenerative, face or eyebrow ptosis, neuromuscular, trauma, iatrogenic, dermatochalasis, ptosis, psychogenic, and fatigue.
• Patients show compensatory behaviors, which may include thrusting the head backward, manually opening the eyes with their fingers, and rubbing the eyebrows.
• Botulinum toxin A is considered the first-line treatment.
• Several disorders will present like apraxia of eyelid opening and must be excluded to treat them appropriately.
• The prognosis is dependent on the chronicity, etiology, and responsiveness to the first-line treatment.
• Chronicity and refraction to treatment can lead to more disruption in functional independence and disability.

Enhancing Healthcare Team Outcomes

The outcomes of apraxia of eyelid opening depend on the cause. However, to improve outcomes, prompt consultation with an interprofessional group of specialists is recommended. The neurologist, in conjunction with occupational therapists, plays an integral part in the treatment. Botulinum toxin injections are usually performed by the ophthalmologist, oculoplastic surgeon, or plastic surgeon. Sometimes it can be injected by the neurologist or movement disorder specialist. Shared decision making and communication are recommended elements for a good outcome. Social worker and case management evaluation may be required for unresponsive cases as apraxia of eyelid opening can cause disability to the patient with impairment of activities of daily living and job performance.