Eyelid Disorder Research Articles

PEDIATRIC BLEPHAROKERATOCONJUNCTIVITIS WITH DESCEMETOCELE AND CORNEAL NEOVASCULARIZATION : A CASE REPORT

Introduction : Blepharokeratoconjunctivitis is a chronic and recurrent inflammatory eyelid disorder that is commonly associated with secondary conjunctival and corneal involvement that is frequently underdiagnosed in children. The objective is to report a descemetocele and corneal neovascularization as severe complications of blepharokeratoconjunctivitis in children.
 Case Illustration : A five years old girl complained blackish lump in the right eye since a month ago. She also had a whitish spot in her eye since a year ago with redness, glare and watery. Three years ago she had a lump in the right eyelid and eye redness intermittently that was getting better with eye drop and history of allergy of house dust mites. Visual acuity (VA) in right eye was hand movement. Anterior segment of the right eye showed telangiectasis of palpebra, hyperemic conjunctiva, with neovascularization of entire surface of the cornea, descemetocele, leucoma and corneal thinning around descemetocele. We injected subconjunctival anti-vascular endothelial growth factor (VEGF) injection then we performed amniotic membrane transplantation. Follow-up 2 months post surgery we found VA was 2 m counting finger and the corneal neovascularization was reduced.
 Discussion : This case represents severe blepharokeratoconjunctivitis can cause some complications, from this patient we found corneal neovascularization and descemetocele. Anti-VEGF injection was to inhibit new blood formation in the patient’s cornea and the amniotic membrane transplantation was to manage the descemetocele.
 Conclusion : Pediatric blepharokeratoconjunctivitis and the complications associated with its treatment can be sight threatening. Early recognition of this disease entity and adequate management may arrest the disease process and may minimize visual morbidity.

PUNARNAVA BIDALAKA IN MANAGEMENT OF BLEPHARITIS: A CASE STUDY

Acharya Sushruta has explained 21 vartmaroga (eyelid disorders) in Sushruta Samhita. Blepharitis is an eyelid disorder defined as inflammation of lid margins and is common worldwide. It accounts for 45% of all ophthalmic diseases. Blepharitis has two major types anterior and posterior Blepharitis. Seborrheic Blepharitis is a subtype of anterior Blepharitis. In modern sciences, various antibiotic and steroidal ointments are provided as treatment for Blepharitis, which has its limitations and side effects. Bidalaka is a kriyakalpa (Ayurvedic therapy) advised for treating eyelid disorders due to its direct action and longer contact time with targeted tissues. Punarnava is preferred as a drug of choice for bidalaka in treating inflammation, itching, scaling and redness in Blepharitis with its anti-inflammatory, anti-edematic, anti-tumour, anti-allergic, and anti-bacterial properties. A 27-year-old female patient was diagnosed with Seborrheic blepharitis and is treated with Punarnava bidalaka, where the results prove to be significantly influential based on its clinical assessment.

DryEyeRhythm: A reliable and valid smartphone application for the diagnosis assistance of dry eye

PurposeUndiagnosed or inadequately treated dry eye disease (DED) decreases the quality of life. We aimed to investigate the reliability, validity, and feasibility of the DryEyeRhythm smartphone application (app) for the diagnosis assistance of DED. MethodsThis prospective, cross-sectional, observational, single-center study recruited 82 participants (42 with DED) aged ≥20 years (July 2020–May 2021). Patients with a history of eyelid disorder, ptosis, mental disease, Parkinson's disease, or any other disease affecting blinking were excluded. Participants underwent DED examinations, including the Japanese version of the Ocular Surface Disease Index (J-OSDI) and maximum blink interval (MBI). We analyzed their app-based J-OSDI and MBI results. Internal consistency reliability and concurrent validity were evaluated using Cronbach's alpha coefficients and Pearson's test, respectively. The discriminant validity of the app-based DED diagnosis was assessed by comparing the results of the clinical-based J-OSDI and MBI. The app feasibility and screening performance were evaluated using the precision rate and receiver operating characteristic curve analysis. ResultsThe app-based J-OSDI showed good internal consistency (Cronbach's α = 0.874). The app-based J-OSDI and MBI were positively correlated with their clinical-based counterparts (r = 0.891 and r = 0.329, respectively). Discriminant validity of the app-based J-OSDI and MBI yielded significantly higher total scores for the DED cohort (8.6 ± 9.3 vs. 28.4 ± 14.9, P < 0.001; 19.0 ± 11.1 vs. 13.2 ± 9.3, P < 0.001). The app's positive and negative predictive values were 91.3% and 69.1%, respectively. The area under the curve (95% confidence interval) was 0.910 (0.846–0.973) with concurrent use of the app-based J-OSDI and MBI. ConclusionsDryEyeRhythm app is a novel, non-invasive, reliable, and valid instrument for assessing DED.

Bilateral carotid cavernous fistula after trauma: a case report and literature review

BackgroundCarotid cavernous fistula is a rare complication that is typically associated with head trauma and skull base fractures. The traumatic bilateral carotid cavernous fistula are significantly rarer.Case presentationsWe report a case of a 61-year-old man presenting with unilateral exophthalmos, swollen eyelids, conjunctival congestion, and edema etiologically associated with severe trauma. Thereafter, the patient demonstrated symptoms of contralateral oculomotor nerve injury caused by skull base fracture, such as ptosis of eyelid, dilated pupils, and eye movement disorder, and was diagnosed with bilateral carotid cavernous fistula.ConclusionsThe patient recovered after undergoing endovascular embolization of bilateral cavernous sinus fistulas. The patient demonstrated the classic symptoms of an extremely rare condition known as bilateral carotid cavernous fistula, in only one eye. Reporting and analyzing this case will help us elucidate the underlying mechanisms of this disease.

Blepharochalasis: clinical and epidemiological characteristics, surgical strategy and prognosis-- a retrospective cohort study with 93 cases

BackgroundBlepharochalasis is a rare eyelid disorder but eventually leading to destructive eyelid deformation. Until now the clinical and epidemiological data are unavailable. This study aimed to report the manifestations, epidemiological characteristics and surgical strategy of a large series of blepharochalasis patients with long-term follow-up. The prognosis of different clinical deformities was also investigated.MethodsThis was a retrospective cohort study, including consecutive patients diagnosed with blepharochalasis in a single center. Blepharoplasty and other surgical approaches were performed according to manifestations, after a 2-year quiescent period with no recurrent attacks and exacerbation of lesions. Prognosis after surgery was recorded.ResultsA total of 93 patients, with a mean age of 30.77 ± 14.04 (range: 9.00–70.00) years were included. Of all those 93 patients, 72.04% were females (67, P = 0.02). The mean follow-up was 5.29 ± 2.07 (range: 3–10) years before surgery, and 2.07 (range:1.54–4.22)years follow-up after surgery. The mean age of onset of blepharochalasis symptoms was 10.09 ± 3.32 (range: 5–16) years, and 83.87% patients got symptoms in puberty. With an average of 5 times per year, the mean duration of each acute attack was 28.12 ± 1.01 (rang: 2–192) hours. The mean duration from the onset of acute attack to the quiescent stage lasted for 7.33 ± 2.05 (range: 4–10) years. Most of the cases (88, 94.62%) had more than one manifestation at the end of the last follow-up before surgery. Ptosis (48.39%) was the most common deformity. Followed by lacrimal gland prolapse (44.09%), canthal angle deformity (29.04%), lower eyelid retraction (17.20%). After surgery, the functional and cosmetically acceptable results were achieved in all patients except for overcorrection in 5 (11.90%) patients with ptosis. The lacrimal gland prolapse recurred in two (4.00%) patients at 29 and 36 months after surgery.ConclusionsBlepharochalasis is rare but mostly occurred in adolescent females. The process from the onset to the stable stage usually lasted for about 7 years, which might be associated with the onset of puberty. Surgical management of clinical manifestations after at least 2-year follow-up period of quiescence would be appropriate in order to observe a great plastic effect, low overcorrection and recurrence rate.

Floppy eyelid, an under-diagnosed syndrome: a review of demographics, pathogenesis, and treatment.

Floppy eyelid syndrome (FES) is a frequent eyelid disorder characterized by eyelid laxity that determines a spontaneous eyelid eversion during sleep associated with chronic papillary conjunctivitis and systemic diseases. FES is an under-diagnosed syndrome for the inaccuracy of definition and the lack of diagnostic criteria. Eyelid laxity can result from a number of involutional, local, and systemic diseases. Thus, it is pivotal to use the right terminology. When the increased distractibility of the upper or lower eyelid is an isolated condition, it is defined as ‘lax eyelid condition’ (LAC). When laxity is associated with ocular surface disorder such as papillary conjunctivitis and dry eyes, it can be referred to as ‘lax eyelid syndrome’ (LES). However, FES is characterized by the finding of a very loose upper eyelid which everts very easily and papillary tarsal conjunctivitis affecting a specific population of patients, typically male, of middle age and overweight. Obesity in middle-aged male is also recognized as the strongest risk factor in obstructive sleep apnea-hypopnea syndrome, (OSAHS). FES has been reported as the most frequent ocular disorder associated with OSAHS. Patients with FES often complain of non-pathognomonic ocular signs and symptoms such as pain, foreign body sensation, redness, photophobia, and lacrimation. Due to these clinical features, FES is often misdiagnosed while an early recognition might be important to avoid its chronic, distressing course and the associated morbidities. This review provides an updated overview on FES by describing the epidemiology, proposed pathogenesis, clinical manifestations, related ocular, and systemic diseases, and treatment options.

Blepharitis: A Review on Human Clinical Trials with Synthetic and Natural Remedies

Blepharitis is an eyelid disorder characterized by inflammation and pain. It affects all the ages and ethnic groups. Primary cause of blepharitis is poor hygienic condition. Topical antibiotics are the preferred first line therapeutic agents along with eyelid cleansing and warm compresses are recommended. Topical steroids, oral antibiotics and calcineurin inhibitors are also recommended in severe conditions. However, recurrence of disease, dose related side effects and safety regimen are still uncertain with these agents. Blepharitis needs a long term treatment, thus novel formulations and products with natural components may be considered more reliable to overcome such issues. In this review article we have discussed human clinical trials (HCTs) conducted with conventional synthetic drugs, novel drug delivery systems developed with synthetic drugs and drugs of natural origin and other supportive measures. As compared to synthetic drugs, formulations with natural origin were found to be safe with minimum side effects.

Photochemical Collagen Cross-Linking Reverses Elastase-Induced Mechanical Degradation of Upper Eyelid Tarsus.

The floppy eyelid syndrome describes an eyelid disorder characterized by floppy tarsal plates that may be caused by a loss of elastin. The authors attempted to create floppy eyelids by digesting elastin from cadaveric tarsus and then treated them with cross-linking using ultraviolet A and riboflavin. Nine right and 9 left upper eyelids were excised from cadavers. Four vertical strips of central tarsus were removed from each eyelid. One strip of tarsus from each eyelid was treated with 10 units/ml of elastase for 2 hours. Another tarsal strip from each eyelid was immersed in normal saline for 2 hours (control). A third strip from the same eyelid was cross-linked using ultraviolet A at 6 mW/cm for 18 minutes. Finally, a fourth strip of tarsus was cross-linked in the same manner following treatment with elastase for 2 hours. A microtensile load cell was used to measure the Young modulus (stiffness) of each tissue. Mean (standard deviation) Young modulus for controls (18.9 ± 3.6 MPa) was significantly higher than samples treated with elastase alone (6.6 ± 3.8 MPa, p <0.01). Samples that were treated with cross-linking after elastase had a mean (standard deviation) Young modulus of 26 ± 2.3 MPa, while those treated with cross-linking alone had a mean (standard deviation) Young modulus of 34 ± 0.15 MPa. The differences in stiffness between all groups were significant (p <0.01). Treatment with elastase significantly reduces the stiffness of tarsal plates. This effect is reversed by cross-linking, raising the possibility of using this modality for the treatment of FES.

Objective Measurement of Eyelid Force in Ptosis Versus Controls.

Thorough evaluation of the upper eyelid is essential for diagnosis and management planning in blepharoptosis. In a previous study, our group described a novel force gauge for direct assessment of upper lid force in healthy subjects. In this study, the authors apply the same technique for measuring muscle forces in ptotic eyelids.Patients scheduled to undergo surgical repair of aponeurotic blepharoptosis or dermatochalasis, from July 2017 to August 2018, in a tertiary care medical center, were enrolled in this prospective case series. When the eyelid disorder was unilateral, the normal eye was designated as control. The upward force generated by the eyelid was measured directly using a handheld dynamometer noninvasively attached to the upper eyelid. Measurements were conducted with and without fixation of the frontalis muscle, to differentiate between total lid force, levator force, and frontalis contribution.A total of 56 eyes was included in the study: 34 in the ptosis group, 11 in the dermatochalasis group, and 11 as controls. Both the ptosis group and the dermatochalasis group had significantly lower total muscle force and levator force measurements when compared with control (P <0.05). Calculated frontalis force contribution to upgaze did not differ significantly between groups. In the control group, calculated frontalis force contribution to upgaze strongly correlated to marginal reflex distance1 (r = 0.75, P = 0.05)In conclusion, the authors present a simple, inexpensive, new portable force gauge for direct eyelid force measurements in eyelid pathologies. Distinct differences between ptotic and healthy eyelids are demonstrated, suggesting potential applications in patient evaluation and management.

Pattern of Eyelid Disorders in a Tertiary Health Centre, South Western, Nigeria

Eye lid lesions can have important esthetic complications, block vision and change the normal shape and function of the eyelid. Purpose: To evaluate the pattern of eye lid lesions in the oculoplastic clinic of this centre in order to estimate the hidden masquerading lesions that may require appropriate interventions. Materials and Methods: The clinic and theatre records of all patients that had eye lid disorders from January 2015-July 2017 were retrieved to obtain demographic characteristics, duration of symptoms, presenting visual acuity, eyelid lesions and histo-pathological diagnosis. Data obtained was analysed using Statistical Package for Social Sciences version 20. Results: A total of 124 patients with eye lid disorders were seen. This constituted 8.3% of all new cases seen in the oculoplastic clinic of the hospital. There were 64 (51.6%) males and 60 (48.4%) females with a male to female ratio of 1.1:1.0. A total of 63 (50.8%) of the patients with eye lid disorder had infective/inflammatory lesions while 22 (17.7%) of the patients had traumatic eye lid disorders. The proportion of eye lid disorders was significantly higher in males less than 40 years. Late presentation of eye lid disorders was higher in females. More than 3/5th of the patients 82(66.1%) had one form of surgical procedures. Conclusion: The incidence of eyelid disorders is relatively high with infective/inflammatory causes as the commonest presentation in young male patients. Early presentation and accurate clinical and histopathological diagnosis with appropriate interventions will prevent both esthetic complications and loss of life from misdiagnosed potential malignant eyelid disorders.

Evaluation of the eyelid disorders in the daily ophthalmic practice in 9 European Countries: The MEIBUM* survey

PurposeTo determine the incidence and characteristics of eyelid inflammatory disorders encountered during general ophthalmology consultations in Europe.MethodsMulticenter, epidemiological survey implemented in 9 European countries (2012–2014). The participating ophthalmologists were asked to include 10 consecutive patients attending for consultations, no matter what reason for visit. A questionnaire recorded reason for visit, ocular history, symptoms, examination of eyelids and ocular surface, diagnosis of MGD or dry eye, impact on daily life, and management of eyelid disorders.Results6,250 patients were recruited from 9 countries; Poland (2,584), Spain (1,925) Portugal (415), Turkey (398), Germany (375), The Netherlands (230), France (185), Belgium (78) and Denmark (60);mean age was 57.2 ± 17.6. 79.5% of patients presented with at least one ocular problem; the most common presenting symptom was dry eye (29.6%). 77.7% of patients had eyelid disorders. MGD was diagnosed in 53.2% and dry eye in 60.9% of patients. MGD was diagnosed in more than half of the patients with a strong link to dry eye (p‐value &lt; 0.001). In case of presence of eyelid disorders there was a 52.5% relative risk increase in having dry eye diagnosis. (RR: 1.525: Confidence Interval, CI, 1.424–1.632). Among the 3,215 patients diagnosed with MGD, 37.3% were classified as having a hyposecretory MGD, 37.3% an obstructive MGD and 38% a hypersecretory MGD. Management included warming (49.5%), cleansing (67.7%), massage (53.6%), and also eye drops for dry eye (81.7%). The impact of eyelid disorder on daily life concerned vision for 56.7%, daily activities/work (53%), leisure (43.1%), and also on emotions (20.6%) and sleep (17.6%).ConclusionsThis survey highlights the importance of examining eyelids more closely during routine eye examinations.

Decision to Choose Acupuncture Therapy for Degenerative Diseases among the Elderly at Ja’far Medika Hospital, Karanganyar

Background: Aging process results in biological, physical, and mental changes in the elderly. Degenerative diseases are common in the elderly. They can be treated by pharmacologic or non pharmacologic treatment. Acupuncture therapy potentially can be used as a complementary or alternative therapy to treat degenerative diseases in the elderly. This study aimed to investigate factors that determine the decision to choose acupuncture therapy for the degenerative diseases in the elderly at Ja'far Medika Hospital, Karanganyar, Central Java.SubjectsandMethod: This was a qualitative study with phenomenology approach. This study was conducted at Ja'far Medika Hospital, Karanganyar, Central Java, fromMarch to April 2015. Ten informants were selected for this study by purposive sampling. The data were collected by in-depth interview, observation, and document review.They were validated by source triangulation, and analyzed by Miles and Huberman method.Results: The sample consisted of 5 men and 5 women, aged 53 to 72 years old, with school attainment varying from primary school to university graduate. Job category included farmer, civil servant, and pensioner. The degenerative diseases that were treated by acupuncture therapy including post-stroke, hernia nucleous pulposus, and eyelid disorder. Internal factors that determined the decision to choose acupuncture were motivation to recover, (religious) belief, and boredom to medical service. External factors that determined the decision to choose acupuncture included the quality of service, family support, trust in the therapist, and hospital image. According to the informants, the acupuncture therapy could help recover their health from the degenerative diseases. Most of them used acupuncture as a complementary treatment.Conclusion: Some internal and external factors determine the decision to choose acupuncture therapy for the degenerative health problem in the elderly. Acupuncture treatment is reported to help recover health in the elderly. Keywords: acupuncture, decision, degenerative disease, elderlyCorrespondence: Purwanto. Masters Program in Public Health, Sebelas Maret University. Email: Purwanto.akp@gmail.com. Mobile: 081393289784.Journal of Health Promotion and Behavior (2016), 1(2): 127-137https://doi.org/10.26911/thejhpb.2016.01.02.08

Caracterización de la morbilidad visual y ocular de la población atendida en la región central, según los reportes de los RIPS, 2009 y 2010

&lt;p align="justify"&gt;&lt;em&gt;Objetivo&lt;/em&gt;: caracterizar la morbilidad visual y ocular de la población atendida en los reportes de los registros individuales de la prestación de servicios de salud (RIPS), años 2009 y 2010, en los departamentos que corresponden a la región central de Colombia. &lt;em&gt;Materiales y Métodos&lt;/em&gt;: estudio descriptivo retrospectivo. Se incluyeron los RIPS del capítulo VII de la Clasificación Internacional de Enfermedades, décima versión (CIE-10): enfermedades del ojo y sus anexos. Para el análisis estadístico, los 59 códigos del capítulo VII del CIE-10 se reagruparon en 18 códigos establecidos por la Red Epidemiológica Iberoamericana de Salud Visual y Ocular (REISVO) y se tuvieron en cuenta las siguientes variables: edad, género y régimen de cobertura en salud. &lt;em&gt;Resultados&lt;/em&gt;: los diagnósticos más frecuentes fueron trastornos de la conjuntiva (2009: 60,1 % y 2010: 25,4 %) y de la acomodación y refracción (2009: 20,9 % y 2010: 43,9 %). El trastorno de los párpados fue el tercer diagnóstico más frecuente en los dos años (2009: 9,5 % y 2010: 4,4 %). El porcentaje de ceguera y disminución de la agudeza visual fue del 3,1 % en el 2010. &lt;em&gt;Conclusiones&lt;/em&gt;: los trastornos de la acomodación y de la refracción tienen una alta prevalencia en la región y afectan principalmente los grupos de población infantil y adulta, lo cual crea una alerta para el Ministerio de Protección Social, pues en el mundo, los errores refractivos no corregidos son la principal causa de deficiencia visual y la segunda causa de ceguera.&lt;/p&gt;

Looking at the eyelids of 4884 patients in Germany, Poland and Spain: the MEIBUM* survey

AbstractPurpose To assess the incidence and characteristics of eyelid disorders during ophthalmology consultations.Methods Multicenter, epidemiological survey implemented in 9 European countries (2012 – 2014). The participating ophthalmologists were asked to include the next 10 patients attending their consultations, whatever the motive of the visit. A 2 page questionnaire recorded: reason for visiting, ocular history, symptoms, examination of eyelids and ocular surface, diagnosis of MGD or Dry eye, impact on daily life, management of eyelid disorders.Results 4884 patients were analyzed within the 3 first countries; Germany (375), Poland (2584), Spain (1925). Mean age was 57.5. 80% of patients had some ocular history, mainly dry eye (31%). Diagnosis of MGD was established in 55% of patients and dry eye in 64%. The impact of eyelid disorder on daily life was mainly on vision for 60% of the patients, on daily activities/work (57%), on leisure (46%), but also on emotions (22%) and sleep (19%). Eyelid disorders were treated by eyelid hygiene recommendations; warming (42%), cleansing (61%), massage (47%) and eye drops for dry eye (82%). Nutritional supplements were recommended in only 32% of patients. 92% of the patients declared at least one symptom related to ocular surface. Conjunctival hyperemia was found at examination in 62% of patients. Fluorescein staining was positive on conjunctiva in 10% and on cornea (SPK) in 23%.Conclusion MGD was diagnosed in more than half of the patients with a strong link to dry eye (p‐value&lt;0.001). The impact of eyelid disorders on daily life is notable. Dry eye seems to be taken in charge more often than MGD. This survey highlights the need to take a closer look at the patients’ eyelids. Commercial interest

Congenital combined eyelid imbrication and floppy eyelid syndrome

Eyelid imbrication syndrome is an idiopathic acquired eyelid disorder characterized by upper eyelids overriding the lower eyelids. Congenital eyelid imbrications syndrome is extremely rare and thorough review of literature revealed only two previously reported cases and one congenital combined eyelid imbrications and floppy eyelid syndrome. We report a third case of bilateral asymmetric congenital eyelid imbrication syndrome and a second case of congenital combined eyelid imbrication and floppy eyelid syndrome that resolved with conservative treatment.

The Blepharochalasis Syndrome

Blepharochalasis is a rare eyelid disorder that often presents in childhood or early adolescence. It is characterized by exacerbations and remissions of painless edema of the upper and occasionally lower eyelids. Although the average duration of attack is only two days, multiple attacks eventually lead to atrophic, wrinkled, and discolored periorbital skin. Other clinical manifestations include ptosis, acquired forms of blepharophimosis, lower lid retraction, pseudoepicanthal folds, proptosis, prolapse of orbital fat, and lacrimal tissue. The etiology of blepharochalasis has yet to be fully elucidated, but histpathologic examinations indicate that elastolytic activity, immunoglobulin A (IgA), and other inflammatory processes might play a substantial role in the pathogenesis of the disease. The treatment of blepharchalasis is primarily surgical, and therefore understanding the natural history is essential to avoid overcorrection and recurrences after surgery. In this review we present the clinical characteristics, differential diagnosis, and treatment options of blepharochalsis.

Acquired Unilateral Pseudoptosis: a Presentation of Silent Sinus Syndrome

Acquired unilateral ptosis usually results from either levator palpebrae disinsertion, eyelid disorder, myasthenia gravis, mitochondrial myopathy, Horner's syndrome, or third nerve palsy. In rare cases, an orbital process is responsible for ptosis or pseudoptosis. A healthy 31-year-old patient complained for 6 months of right eyelid ptosis. On examination, there was 1 mm right upper eyelid ptosis and 1 mm of right enophthalmos. Upon downgaze, an apparent right eyelid retraction was present. Magnetic resonance imaging showed filling and retraction of the right maxillary sinus with inferior displacement of the right orbital floor. Surgical management was performed with a favourable outcome. Silent sinus syndrome is an asymptomatic chronic maxillary sinus atelectasis, resulting in ipsilateral enophthalmos, hypoglobus, and occasionally eyelid pseudoptosis. Silent sinus syndrome should be incorporated in the differential diagnosis of acquired unilateral ptosis.

An investigation into FOXE1 polyalanine tract length in premature ovarian failure

Premature ovarian failure (POF) is a common condition affecting 1% of women worldwide. There is strong evidence for genetic involvement in POF as many cases are familial, and mutations in several genes have been associated with POF. We investigated variation in FOXE1 polyalanine tract length, following the observation that polyalanine tract deletions are seen in the closely related FOXL2 in patients with POF. In addition, polyalanine tract expansions in FOXL2 are often seen in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare eyelid disorder often associated with POF. The FOXE1 polyalanine tract shows marked variation in its length between POF patients and normal controls, existing as an allele of 12, 14, 16, 17 or 19 alanine residues. We found evidence to suggest that variation in FOXE1 polyalanine tract length predisposes to POF.

Paroxysmal eyelid movements: A confusing feature of generalized photosensitive epilepsy

Eyelid flutter is sometimes part of typical childhood absence epilepsy. In this study, the authors describe persistent, frequent, nonepileptic paroxysmal eyelid movements in 19 children and adults (17 females and 2 males) with well-controlled generalized epilepsy. The patients were identified from five epilepsy centers. All had generalized photosensitive epilepsy requiring antiepileptic drugs. In two children, paroxysmal eyelid movements began 2 to 4 years before their epilepsy was noted; in the remainder, it was noted when epilepsy was first diagnosed. Age at last follow-up was 8 to 38 years (average 21 years) with average follow-up of 9 years. All patients showed photosensitive generalized spike-wave discharges on EEG. Paroxysmal eyelid movements were a source of diagnostic confusion, but direct examination and video during EEG recording distinguished the attacks from absence seizures. In all cases, the epilepsy was well controlled with antiepileptic drugs, but the paroxysmal eyelid movements did not resolve with age. In 12 cases, there was a family history of the eyelid disorder without epilepsy. The authors suggest an association between paroxysmal eyelid movements and photosensitive generalized epilepsy.—Valerie Biousse

Paroxysmal eyelid movements: a confusing feature of generalized photosensitive epilepsy.

Persistent, frequent, nonepileptic paroxysmal eyelid movements were observed in 19 children and adults with well-controlled generalized epilepsy. Patients were identified from five epilepsy centers. Seventeen patients were female and two male. All had generalized photosensitive epilepsy requiring antiepileptic drugs (AEDs). In two children, paroxysmal eyelid movements began 2 to 4 years before their epilepsy was noted; in the remainder, it was noted when epilepsy was first diagnosed. Age at last follow-up was 8 to 38 years (average 21 years) with average follow-up of 9 years. All patients showed photosensitive generalized spike-wave discharges on EEG. Paroxysmal eyelid movements were a source of diagnostic confusion, but direct examination and video during EEG recording distinguished the attacks from absence seizures. In all cases, the epilepsy is completely or nearly completely controlled with AEDs, but the paroxysmal eyelid movements have not resolved with age. In 12 cases, there was a family history of the eyelid disorder without epilepsy. Videos of patients and an affected parent are available on the Neurology Web site. There is an association between paroxysmal eyelid movements and photosensitive generalized epilepsy, creating diagnostic confusion.