Thromboembolism and Congenital Malformations

Parsa, Cameron F.; Robert, Matthieu P.

doi:10.1001/jamaophthalmol.2013.1111

Cited by 41 publications

(12 citation statements)

References 113 publications

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“…Another explanation put forth by Parsa and Robert 56 states that during embryogenesis, higher estrogen levels along with greater risk of inflammation predispose females to venous thromboembolic events. This along with right to left shunt causes more embolic phenomena that affect the left carotid artery, causing dysregulated apoptosis followed by misinnervation and ocular malformations.…”

Section: Demographymentioning

confidence: 99%

Duane retraction syndrome: causes, effects and management strategies

Kekunnaya¹,

Negalur²

2017

OPTH

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Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber’s classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.

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Section: Demographymentioning

confidence: 99%

Duane retraction syndrome: causes, effects and management strategies

Kekunnaya¹,

Negalur²

2017

OPTH

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“…[ 16 ] This has been attributed to fibrin emboli preferentially traveling to left carotid vessels in-utero because of the asymmetry of thoracic vasculature. [ 17 ] However, Demerci et al . found no statistically significant difference between either eye involvement.…”

Section: Discussionmentioning

confidence: 99%

The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature

Alam

Nishanth

Ramasubramanian

et al. 2020

Indian J Ophthalmol

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Purpose: To report a rare case series of 14 patients of the Marcus-Gunn jaw-winking phenomenon (MGJWP) without ptosis. Methods: This was a retrospective noninterventional case series. The medical records of all patients diagnosed with MGJWP over the past 10 years were retrieved. Patients with documented evidence of absence of ptosis were segregated and analyzed for visual acuity, the severity of Marcus-Gunn, the presence of squint and amblyopia, and the presence of other aberrant regenerations. Results: A total of 207 patients were diagnosed with MGJWP, out of which 14 (6.76%) patients had isolated MGJWP without blepharoptosis. The mean age of presentation was 9.5 years and males and females were equally affected. The left eye was involved more commonly (57.2%) than the right eye. Twelve patients were congenital and two were presumed to be of traumatic origin. The most common refractive error in this cohort was astigmatism (10, 71.42%), followed by hyperopia (5, 35.71%). One patient had anisometropic amblyopia. Marcus-Gunn was found to be mild (≤2 mm of lid excursion) in all cases. None of the patients had strabismus or any other aberrant innervations. None of the patients underwent surgery and did not develop ptosis or worsening or improvement of Marcus-Gunn after a mean follow-up period of 2.3 years. Conclusion: Isolated MGJWP in the absence of ptosis is a very rare entity and this is the largest series to date to report such an occurrence. All patients had a mild form of MGJWP with no intervention required in any of the cases.

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“…The traditional view is that the strabismus may occur secondary to the disruption of binocularity resulting from the visual occlusion by the ptotic eyelid 31 , 36 . Other hypotheses center around a genetic predisposition or an intrauterine insult to the overlapping regions of the oculomotor nuclear complex or the third cranial nerve 17 , 37 .…”

Section: Discussionmentioning

confidence: 99%

Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis

Wang

Liu

et al. 2018

Sci Rep

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Congenital ptosis may be associated with abnormalities of visual development and function, including amblyopia, strabismus and refractive errors. However, the prevalence estimates of these abnormalities vary widely. We performed a systematic review and meta-analysis to estimate the prevalence of amblyopia, strabismus and refractive errors in congenital ptosis. Cochrane, Pubmed, Medline, Embase, and Web of Science were searched by July 2017. We used random/fixed effects models based on a proportion approach to estimate the prevalence. Heterogeneity would be considered signifcant if the p values less than 0.1 and/or I2 greater than 50%. Subgroup analyses, meta-regression analyses and sensitivity analyses were utilized to explore the potential sources of it. A total of 24 studies selected from 3,633 references were included. The highest prevalence was revealed for myopia with 30.2% (95%CI 3.0–69.8%), followed by 22.7% (95%CI 18.5–27.8%) for amblyopia, 22.2% (95%CI 7.8–63.1%) for astigmatism, 19.6% (95%CI 16.5–23.2%) for strabismus, 17.3% (95% CI 13.1–22.9%) for anisometropia and 4.0% for hyperopia (95%CI 1.8–7.1%). Significant heterogeneity was identified across most estimates. Our findings suggest that amblyopia, strabismus and refractive errors in congenital ptosis are present in much higher percentage. This study highlights the importance of early diagnosis and timely treatment of patients with congenital ptosis.

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Thromboembolism and Congenital Malformations

Cited by 41 publications

References 113 publications

Duane retraction syndrome: causes, effects and management strategies

Duane retraction syndrome: causes, effects and management strategies

The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature

Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis

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