Ocular Findings in Treacher Collins Syndrome

Wang, Frederick M.; Millman, Arthur L.; Sidoti, Paul A.; Goldberg, Rosalie

doi:10.1016/s0002-9394(14)76345-7

Cited by 34 publications

(13 citation statements)

References 10 publications

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“…The increased prevalence of astigmatism in patients with genetic syndromes associated with altered eyelid morphology (e.g. Down syndrome, Treacher‐Collins Syndrome and Spina Bifida), the changes in astigmatism associated with eyelid abnormalities (e.g. ptosis, capillary haemangioma and chalazia), and the fact that corneal astigmatism can be altered by changes in eyelid position and gaze direction all support a potential role for eyelid pressure influencing corneal shape and hence determining astigmatism.…”

Section: Prevalence Ocular Origins and Aetiology Of Astigmatismmentioning

confidence: 99%

The visual and functional impacts of astigmatism and its clinical management

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Vincent

Collins

2014

Ophthalmic Physiologic Optic

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Purpose: To provide a comprehensive overview of research examining the impact of astigmatism on clinical and functional measures of vision, the short and longer term adaptations to astigmatism that occur in the visual system, and the currently available clinical options for the management of patients with astigmatism. Recent findings: The presence of astigmatism can lead to substantial reductions in visual performance in a variety of clinical vision measures and functional visual tasks. Recent evidence demonstrates that astigmatic blur results in short-term adaptations in the visual system that appear to reduce the perceived impact of astigmatism on vision. In the longer term, uncorrected astigmatism in childhood can also significantly impact on visual development, resulting in amblyopia. Astigmatism is also associated with the development of spherical refractive errors. Although the clinical correction of small magnitudes of astigmatism is relatively straightforward, the precise, reliable correction of astigmatism (particularly high astigmatism) can be challenging. A wide variety of refractive corrections are now available for the patient with astigmatism, including spectacle, contact lens and surgical options. Conclusion: Astigmatism is one of the most common refractive errors managed in clinical ophthalmic practice. The significant visual and functional impacts of astigmatism emphasise the importance of its reliable clinical management. With continued improvements in ocular measurement techniques and developments in a range of different refractive correction technologies, the future promises the potential for more precise and comprehensive correction options for astigmatic patients.

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Section: Prevalence Ocular Origins and Aetiology Of Astigmatismmentioning

confidence: 99%

The visual and functional impacts of astigmatism and its clinical management

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Vincent

Collins

2014

Ophthalmic Physiologic Optic

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“…Wang and associates 133 reported on the ocular findings of 14 patients with Treacher Collins syndrome, a rare congenital disorder. The patients generally exhibited a downward slanting of the palpebral fissure.…”

Section: Astigmatism In Diseases and Syndromesmentioning

confidence: 99%

A review of astigmatism and its possible genesis

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Collins

Carney

2007

Clinical and Experimental Optometry

220

205

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Astigmatism is a refractive condition encountered commonly in clinical practice. This review presents an overview of research that has been carried out examining various aspects of this refractive error. We examine the components of astigmatism and the research into the prevalence and natural course of astigmatic refractive errors throughout life. The prevalence of astigmatism in various ethnic groups and diseases and syndromes is also discussed. We highlight the extensive investigations that have been conducted into the possible aetiology of astigmatism, however, no single model or theory of the development of astigmatism has been proven conclusively. Theories of the development of astigmatism based on genetics, extraocular muscle tension, visual feedback and eyelid pressure are considered. Observations and evidence from the literature supporting and contradicting these hypotheses are presented. Recent advances in technology such as wavefront sensors and videokeratoscopes have led to an increased understanding of ocular astigmatism and with continued improvements in technology, our knowledge of astigmatism and its genesis should continue to grow.

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“…As alterações mais frequentes são: estrabismo, ametropias e alterações palpebrais, dentre outras (33,34).…”

Section: Discussionunclassified

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura

Spezzia

2018

JOI

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A Síndrome de Treacher Collins é um distúrbio do desenvolvimento de herança autossômica dominante e expressividade variável que ocorre, devido a um defeito genético com mutações no gene TCOF1, presente no cromossomo 5, que tem 26 éxons e codifica uma proteína chamada treacle. O objetivo desta pesquisa foi averiguar por intermédio de uma revisão de literatura as principais manifestações clínicas propiciadas pela síndrome em âmbito odontológico. Realizou-se revisão bibliográfica com busca nas bases de dados: PubMED e Google Acadêmico. Na base PubMED empregou-se a expressão de busca: treacher collins syndrome and dentistry and oral health. No Google Acadêmico utilizou-se a expressão de busca: síndrome de treacher collins and odontologia and saúde bucal. O diagnóstico, o tratamento bem como as orientações dispensadas aos pacientes acerca da enfermidade, devem ser precoces, e são importantes para o restabelecimento das funções mastigatória, estética e auditiva. Concluiu-se que as abordagens clínicas nesses pacientes devem ser precoces para minimizar eventuais danos e que as intervenções terapêuticas propostas visam melhorar a qualidade de vida dos pacientes acometidos pela síndrome.

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Ocular Findings in Treacher Collins Syndrome

Cited by 34 publications

References 10 publications

The visual and functional impacts of astigmatism and its clinical management

The visual and functional impacts of astigmatism and its clinical management

A review of astigmatism and its possible genesis

Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura

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