Benign Essential Blepharospasm: What We Know and What We Don’t

Hwang, Christopher J.; Eftekhari, Kian

doi:10.1097/iio.0000000000000207

Cited by 17 publications

(16 citation statements)

References 109 publications

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“…Patients are predominately females with no family history of the disease [4]. In families with multiple affected individuals, the inheritance mode is apparently autosomal dominant with reduced penetrance [5]. Over the last decade, the advent of next generation sequencing has linked several gene mutations as possible causes of this presentation.…”

Section: Introductionmentioning

confidence: 99%

Blepharospasm: A genetic screening study in 132 patients

Hammer

Abravanel

Peckham

et al. 2019

Parkinsonism & Related Disorders

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Introduction: Blepharospasm is a common type of focal dystonia that involves involuntary eyelid spasms and eye closure. In familial cases, an autosomal dominant pattern of inheritance is noted with reduced penetrance. Few genes have been associated with the disease including GNAL and CIZ1. A whole exome sequencing study published lately suggested TOR2A and REEP4 as potential candidate genes.Methods: Sanger sequencing of GNAL, CIZ1, TOR2A and REEP4 exons including exonintron boundaries in 132 patients diagnosed primarily with blepharospasm and/or Meige's syndrome.Results: All variants detected in GNAL, CIZ1 and TOR2A seem to be benign. Sequencing of REEP4 revealed the presence of two nonsynonymous SNVs, one potential splice site variant and one indel all predicted to be damaging by in silico algorithms. Conclusion:Sequencing REEP4 in larger blepharospasm cohorts and functional studies will need to be performed to further elucidate the association between REEP4 and the disease.

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Section: Introductionmentioning

confidence: 99%

Blepharospasm: A genetic screening study in 132 patients

Hammer

Abravanel

Peckham

et al. 2019

Parkinsonism & Related Disorders

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“…This ocular disorder affects approximately 1.4–13.3 cases per 100,000 people, mainly women, and the typical onset of the disease occurs between the fifth and seventh decades of life. Although the detailed causes of BEB remain unknown [ 191 , 192 , 193 ], they may be associated with disturbances in the regulation of intracellular and extracellular ionized calcium (Ca 2+ ), an ion responsible for triggering muscle contraction [ 194 ]. Interestingly, patients with BEB demonstrate significantly lower serum calcium levels than healthy subjects [ 194 ].…”

Section: Vitamin D Vdr and Calcitriol Analogues In Ocular Diseasesmentioning

confidence: 99%

Vitamin D, the Vitamin D Receptor, Calcitriol Analogues and Their Link with Ocular Diseases

Caban

Lewandowska

2022

Nutrients

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The global prevalence of eye diseases continues to grow, bringing with it a reduction in the activity levels and quality of life of patients, and partial or complete blindness if left untreated. As such, there is considerable interest in identifying more effective therapeutic options and preventive agents. One such agent is vitamin D, known to have a range of anti-cancer, anti-angiogenic, anti-inflammatory and anti-oxidative properties, and whose deficiency is linked to the pathogenesis of a range of cardiovascular, cancer, and inflammatory diseases. This review presents the current stage of knowledge concerning the link between vitamin D and its receptor and the occurrence of eye disease, as well as the influence of analogues of calcitriol, an active metabolite of vitamin D. Generally, patients affected by various ocular disorders have vitamin D deficiency. In addition, previous findings suggest that vitamin D modulates the course of eye diseases and may serve as a marker, and that its supplementation could mitigate some disorders. However, as these studies have some limitations, we recommend further randomized trials to clarify the link between vitamin D and its activity with eye disease.

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“…Nowadays, there are a few relevant publications on the etiology of Meige Syndrome. In families with multiple patients, the inheritance pattern is autosomal dominant, and penetrance is reduced [12]. GNAL, ANO3, CIZ1, and REEP4 were considered to be related to the onset of the adult cervical or cranial-cervical dystonia [13][14][15][16].…”

Section: Detailed Examination Of Meige Syndrome Bymentioning

confidence: 99%

Identification of Novel Variants in 8 Families With Meige Syndrome Using Whole-exome Sequencing

Wang

Zhang

et al. 2021

Preprint

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Background: Meige syndrome is a type of cranial dystonia characterized by blepharospasm and infraorbital dystonia and may be related to movement disorders of the mandibular and facial muscles, mouth, jaw, tongue, pharynx and cervical muscles. However, the etiopathogenesis of this disease condition remains unknown. Our present study aimed to find clues to the pathogenic factors of Meige Syndrome using whole-exome sequencing. Results: The study included 13 clinically diagnosed patients with Meige syndrome, a subtype of facial dystonia, from eight families (marked as Family 1 to Family 8) and two matched controls in two of the eight families. The genomic DNA was extracted from peripheral blood for whole-exome sequencing (WES). Quality control filtering, genome repeat filtering, genomAD/1000g filtering, exonic & splicing site filtering, hazard filtering, Varsome (ACMG) filtering were used to find the genes predicted to be damaging in Meige Syndrome. Among 582,715 SNP or indel variants. One variant in PALM3 (rs374267554, NC_000019.9:g.14167249G>A) passed our analysis and detection criteria. We verified the variant site using Sanger sequencing in another 48 patients. Structural analysis of the PALM3 variant predicted its potential effects on pathogenicity.Conclusions: Our findings contribute to a better understanding of the impact of the PALM3 variant on the pathogenicity of Meige Syndrome. Sequencing PALM3 in larger Meige Syndrome cohorts and functional studies will need to be performed to further elucidate the association between PALM3 and the disease.

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Benign Essential Blepharospasm: What We Know and What We Don’t

Cited by 17 publications

References 109 publications

Blepharospasm: A genetic screening study in 132 patients

Blepharospasm: A genetic screening study in 132 patients

Vitamin D, the Vitamin D Receptor, Calcitriol Analogues and Their Link with Ocular Diseases

Identification of Novel Variants in 8 Families With Meige Syndrome Using Whole-exome Sequencing

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