The Eye-Epilepsy Connection: Jeavons Syndrome

Sejal R Singh, M.Optom

Research Optometrist, Sankara Nethralaya, Chennai, India

 

Introduction:

Epilepsy is a chronic neurological condition where clusters of nerve cells, or neurons, in the brain occasionally send incorrect signals, leading to seizures.

Jeavons syndrome, or epilepsy with eyelid myoclonia (EMA), is a childhood idiopathic generalised epilepsy. It is distinguished by three main symptoms: photosensitivity, eye-closure-induced seizures, eyelid myoclonia with or without absences, and EEG paroxysms.⁽¹⁾

There is a female predominance, and the onset commonly occurs between the ages of two and fourteen. Despite the childhood beginnings, it is likely underreported and underrecognized, which results in misdiagnosis or delayed diagnosis.⁽²⁾ A hereditary aetiology for epilepsy with eyelid myoclonus is postulated based on family studies including probands and monozygotic twins. It’s unclear how inheritance occurs.⁽³⁾ While dominant alleles have been linked to certain individuals, complex genetic heterogeneity is probably present in some patients. Variants in KCNB1, KIAA2022, NAA10, and CHD2 (chromodomain helicase DNA-binding protein 2) have all been shown to have mutations. Additional research is required to elucidate the function of genetics.⁽⁴⁾ The clinical features of the condition are described in table 1.

Clinical features:

Table 1: Describes the clinical features of Jeavons Syndrome

Eyelid myoclonia (hallmark) with or without brief absence seizures	Eye closure-induced seizures or EEG paroxysms and/or generalised spike wave activity	Photosensitivity or photo paroxysmal response
Eyelid myoclonia is a defining feature of Jeavons syndrome and is consistently present, appearing as flickering, trembling, fluttering, twitching, or jerking of the eyelids. This typically occurs immediately after a slow, deliberate eyelid closure performed “on command” or voluntarily. The eyes may remain open along with a stare or the eyelids may open, retract, and twitch along with an upward gaze deviation. Patients may experience head retropulsion.(5)	Eye closure usually triggers fluttering, flickering, or jerking of the eyelids, which is linked to brief generalised polyspike wave and/or generalised spike wave activity at 3 to 6 Hz. This phenomenon is observed in light and may disappear in the dark (Figure 1).	These phenomena are consistently triggered by photic stimulation, even with the eyes open, and may vanish when the eyes are closed in complete darkness. Patients can experience visually induced seizures. Photosensitivity tends to decrease with age and with the use of antiepileptic drugs like levetiracetam.(6)

Figure 1: Poly spike wave in patients of Jeavons syndrome
Image courtesy: Jeavons Syndrome: Clinical Features and Response to Treatment – ScienceDirect

Although eyelid myoclonia, with or without absence seizures, is the main clinical manifestation, most patients eventually develop generalised tonic-clonic seizures, which can occur spontaneously or be induced by light. Some individuals may also experience myoclonic seizures affecting other parts of the body. Atonic and tonic seizures have been observed as well. Eyelid myoclonia status epilepticus has been reported and may arise if seizures are not adequately managed.⁽⁷⁾

Diagnosis:

Diagnosing Jeavons syndrome is straightforward, relying on the patient’s history, clinical observation, and the provocation of symptoms through on-command eye closure, with confirmation via EEG. This is typically followed by a more comprehensive sleep-awake video polygraphy-EEG after sleep deprivation, using proper intermittent photic stimulation (IPS) techniques. MRI (magnetic resonance imaging) scans are typically normal but may be performed to rule out any brain abnormalities. Genetic testing generally yields negative results.

Management:

Medications ⁽⁸⁾

Table 2: Drugs to be given and to be avoided

Drugs To Be Given	Drugs To Be Avoided
Levetiracetam (Keppra), Valproic acid (Depakote/Depakene) Ethosuximide (Zarontin) Lamotrigine (Lamictal) Topiramate (Topamax) Clobazam (Onfi)	Oxcarbazepine (Trileptal/Oxtellar XR) Carbamazepine (Tegretol/Epitol) Lacosamide (Vimpat) Phenytoin (Dilantin/Phenytek)

Common medications are usually administered in combination, whereas some medicines are avoided as they may exacerbate seizure (Table 2).⁽⁸⁾

Optometrist’s role:

Because Jeavons syndrome has distinct visual characteristics, optometrists play a critical role in both identifying and treating the condition. Since they are the first to notice the myoclonia and photosensitivity of the eyelids together with the seizure history. With tests and observations, optometrists can assess a patient’s photosensitivity, or sensitivity to light. Identifying these triggers is essential for tailoring management strategies and avoiding seizure-inducing environments.

Optometrists may recommend specialist lenses, like Z1 blue lenses with ultraviolet filters, to lessen or completely eradicate photoparoxysmal responses because Jeavons syndrome is photosensitive.⁽⁹⁾ By reducing the visual stimulation that may cause seizures, these lenses offer a non-pharmacological method of therapy. Their role also includes monitoring the effectiveness of lens therapy and making necessary adjustments.

By giving thorough EEG and MRI reports of ocular symptoms and intervention reactions, they also add to the overall care plan. Informing patients and their families about the significance of controlling light exposure and identifying early indicators of seizure activity is a major responsibility of optometrists. They can offer advice on how to change one’s lifestyle to lessen the frequency of seizures, such as avoiding light situations.

In conclusion, optometrists have a critical role in the multidisciplinary care of Jeavons syndrome, especially in the areas of patient education, early identification, and visual trigger management. Their proficiency in eye care greatly enhances the quality of life for individuals suffering from this ailment.

 

References

1. Duncan, J. S., & Panayiotopoulos, C. P. (Eds.). (1996). Eyelid myoclonia with absences. John Libbey Eurotext.
2. Padmanaban, V., Inati, S., Ksendzovsky, A., & Zaghloul, K. (2019). Clinical advances in photosensitive epilepsy. Brain Research, 1703, 18-25.
3. Marini, C., Romoli, M., Parrini, E., Costa, C., Mei, D., Mari, F., … & Guerrini, R. (2017). Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. Neurology: Genetics, 3(6), e206.
4. Fisher, R. S., Cross, J. H., D’souza, C., French, J. A., Haut, S. R., Higurashi, N., … & Zuberi, S. M. (2017). Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia, 58(4), 531-542.
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6. Giuliano, L., Mostile, G., Fatuzzo, D., Mainieri, G., Nicoletti, A., Sofia, V., & Zappia, M. (2019). Abnormal visual sensitivity in eyelid myoclonia with absences: evidence from electrocortical connectivity and non-linear quantitative analysis of EEG signal. Seizure, 69, 118-124.
7. Giuliano, L., Mostile, G., Fatuzzo, D., Mainieri, G., Nicoletti, A., Sofia, V., & Zappia, M. (2019). Abnormal visual sensitivity in eyelid myoclonia with absences: evidence from electrocortical connectivity and non-linear quantitative analysis of EEG signal. Seizure, 69, 118-124.
8. Parissis, D., Ioannidis, P., & Karacostas, D. (2014). Levetiracetam as alternative treatment in Jeavons syndrome. Journal of the Neurological Sciences, 341(1-2), 147-149.
9. Capovilla, G., Gambardella, A., Rubboli, G., Beccaria, F., Montagnini, A., Aguglia, U., … & Tassinari, C. A. (2006). Suppressive efficacy by a commercially available blue lens on PPR in 610 photosensitive epilepsy patients. Epilepsia, 47(3), 529-533.