Horizontal Strabismus Worldwide – What Are The Risk Factors?

Donnelly, Ursula M.

doi:10.3109/09286586.2012.681002

Cited by 16 publications

(16 citation statements)

References 19 publications

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“…Regarding the first possible explanation for the decline in surgery for esotropia, a true decrease in incidence of esotropia, this could be secondary to addressing modifiable risk factors including maternal smoking, prematurity, low birth weight and neurodisability 7. Our study was unable to accurately identify the rate of diagnosis of strabismus, however, previous work has indicated that despite a significant decline in strabismus surgery, this was not a reflection of a reduction in the diagnosis of strabismus, which had remained steady 3…”

Section: Discussionmentioning

confidence: 99%

Decrease in the rate of esotropia surgery in the United Kingdom from 2000 to 2010

Heng

MacEwen

2013

Br J Ophthalmol

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Section: Discussionmentioning

confidence: 99%

Decrease in the rate of esotropia surgery in the United Kingdom from 2000 to 2010

Heng

MacEwen

2013

Br J Ophthalmol

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“…Indeed approximately 15% of children of strabismic parents are strabismic, compared to the 2% prevalence of strabismus in the general population (Donnelly, 2012). Ziakas showed however that this proportion may vary depending on the type of strabismus and the degree of relationship (Ziakas et al, 2002).…”

Section: Peripheral and Genetic Origins Of Strabismusmentioning

confidence: 99%

Origins of strabismus and loss of binocular vision

Quoc

Milleret

2014

Front. Integr. Neurosci.

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Strabismus is a frequent ocular disorder that develops early in life in humans. As a general rule, it is characterized by a misalignment of the visual axes which most often appears during the critical period of visual development. However other characteristics of strabismus may vary greatly among subjects, for example, being convergent or divergent, horizontal or vertical, with variable angles of deviation. Binocular vision may also vary greatly. Our main goal here is to develop the idea that such “polymorphy” reflects a wide variety in the possible origins of strabismus. We propose that strabismus must be considered as possibly resulting from abnormal genetic and/or acquired factors, anatomical and/or functional abnormalities, in the sensory and/or the motor systems, both peripherally and/or in the brain itself. We shall particularly develop the possible “central” origins of strabismus. Indeed, we are convinced that it is time now to open this “black box” in order to move forward. All of this will be developed on the basis of both presently available data in literature (including most recent data) and our own experience. Both data in biology and medicine will be referred to. Our conclusions will hopefully help ophthalmologists to better understand strabismus and to develop new therapeutic strategies in the future. Presently, physicians eliminate or limit the negative effects of such pathology both on the development of the visual system and visual perception through the use of optical correction and, in some cases, extraocular muscle surgery. To better circumscribe the problem of the origins of strabismus, including at a cerebral level, may improve its management, in particular with respect to binocular vision, through innovating tools by treating the pathology at the source.

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“…Primer izole şaşılıklar, şaşılıkların büyük bölümünü oluşturmaktadır. 9 Primer izole şaşılıkta etnik köken, aile hikayesi, genetik koşullar gibi değiştirilemeyen ve prematür doğum, gebelikte sigara içimi, düşük doğum ağırlığı, kırma kusuru varlığı, nöral yetersizlik gibi kısmen değiştirilebilir risk faktörleri söz konusudur. Sık görülüyor olmasına rağmen primer izole şaşılıkların genetik etyolojisi ile ilgili bilgilerimiz sınırlıdır.…”

Section: Discussionunclassified

“…Sık görülüyor olmasına rağmen primer izole şaşılıkların genetik etyolojisi ile ilgili bilgilerimiz sınırlıdır. 9 Şaşılıkta otozomal dominant, otozomal resesif ve otozomal dominant eksik penetranslı kalıtımlardan söz edilmiştir. Sendromik şaşılıkların kalıtım paterni, primer izole şaşılıkların kalıtım paterninden daha iyi bilinmektedir.…”

Section: Discussionunclassified

Geniş Bir Konkomitan Şaşılık Ailesinde Gen Lokalizasyonunun Saptanması

Turan¹,

Şener²,

Sanaç³

2013

tjo

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ÖzetAmaç: Geniş bir ekzotropya ailesinde, konkomitan şaşılık ile bağlantılı gen bölgesini tanımlamak.Ge reç ve Yön tem: Genom boyu analizi bilinen, 17'sinde basit ekzotropya, 3'ünde intermitant ekzotropya bulunan, 3 kuşakta toplam 31 birey içeren bir aile çalışıldı. Genom boyu analizi verileri, pedigri analizi ile desteklenen ve eksik penetrans gösteren otozomal dominant kalıtım kalıbı varsayımı altında değerlendirildi. Pozitif lod (logarithm of odds) skor saptanan, üç farklı kromozomda (kromozom 7, 13 ve 18) 4 ayrı bölgeye detaylı haplotip analizi yapıldı. Sonuçlar:Haplotip analizi sonucunda 13. kromozom üzerindeki ilk bölge tam olarak dışlanabildi, ancak 2. bölge ailedeki yüksek homozigotluk nedeniyle dışlanamadı. Ayrıca, 18. kromozom üzerindeki 200000 baz büyüklüğündeki bir bölge de dışlanamadı. 7p14.1 lokusunda 9 megabazlık (Mb) bir bölgenin ise tüm aile bireylerinde ortak olarak kalıtıldığı saptandı. Aile bireylerinde gözlenen kalıtım ve crossing-over paterni dikkate alındığında, 7p14.1 bölgesi ailede şaşılığın kalıtımından sorumlu olan en muhtemel bölge olarak değerlendirildi. Tar t›fl ma: 7p14.1 lokusu literatürde 7. kromozom üzerinde bildirilen bölgelerden farklı bir yerdedir ve yeni bir lokustur. Bu çalışma, 3 kuşak boyunca kritik rekombinasyonların gösterilebildiği ilk çalışmadır ve özgül genin belirlenmesine yönelik gelecek çalışmalar için ışık tutacaktır. (Turk J Ophthalmol 2013; 43: 407-12) Anah tar Ke li me ler: Genetik, haplotip analizi, şaşılık Sum mary Pur po se: To define the gene locus related with concomitant strabismus in a large exotropia family. Ma te ri al and Met hod:A three-generation family including 31 individuals among which 17 members had basic exotropia and 3 members had intermittent exotropia with known genome-wide analysis was investigated. The data of genome-wide analysis was evaluated under the assumed pattern of autosomal dominant inheritance with incomplete penetrance which was supported by pedigree analysis. Detailed haplotype analysis of four regions on 3 chromosomes (chromosome 7, 13 and 18) which had positive lod scores in previous studies was performed. Re sults:The first region on chromosome 13 was excluded regarding haplotype analysis, but the second region could not be excluded because of the high homozigocity in the family. The region which had 200.000 bases on chromosome 18 could not be excluded as well. The region which had 9 Mb on 7p14.1 was common for all family members. 7p14.1 locus is considered as the most likely region responsible for the inheritance of strabismus in regard with familial inheritance and crossing-over pattern.Dis cus si on: The 7p14.1 locus identified in this study is a novel site and it is different from the regions on chromosome 7 which were reported in previous studies. To the best of our knowledge, this is the first study demonstrating the presence of critical recombinations across three generations and will shed light for further studies which will define the specific gene. (Turk J Ophthalmol 2013; 43: 407-12)

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Horizontal Strabismus Worldwide – What Are The Risk Factors?

Cited by 16 publications

References 19 publications

Decrease in the rate of esotropia surgery in the United Kingdom from 2000 to 2010

Decrease in the rate of esotropia surgery in the United Kingdom from 2000 to 2010

Origins of strabismus and loss of binocular vision

Geniş Bir Konkomitan Şaşılık Ailesinde Gen Lokalizasyonunun Saptanması

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