Ocular Manifestations in Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)

Brant, Arthur; Schachat, Andrew P.; White, Robert I.

doi:10.1016/0002-9394(89)90261-4

Cited by 60 publications

(55 citation statements)

References 14 publications

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“…Brand observed retinal involvement in 2 of 20 HHT patients. One of them had numerous telangiectatic vessels on papillomacular bundle and other had multiple foci of fine telangiectasia throughout the retina [1]. Ocular lesions in HHT are generally stable and rarely cause symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…It has been reported in 35-38 % of HHT cases and it is harmless being not accepted as an indicator of visceral involvement [1][2][3].…”

Section: Discussionmentioning

confidence: 99%

“…Retinal vascular abnormalities, which had been reported in 10 % of cases, are the tortuosity and the dilatation of the retinal vessels, retinal telangiectasia, new optic disc vessels, and retinal arteriovenous malformations [1,3,5] while the only reported choroidal lesion which may lead to surgical complications is telangiectasia [6].…”

Section: Discussionmentioning

confidence: 99%

“…Retinal telangiectasia, retinal arteriovenous malformations, and choroidal telangiectasia are other relatively rare ocular findings [1][2][3]. We herein present a case of HHT with bilateral multiple retinal fusiform aneurysms and conjunctival telangiectasia.…”

Section: Introductionmentioning

confidence: 88%

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Hereditary hemorrhagic telangiectasia with multiple fusiform retinal aneurysms

Uğurlu

Emre

Yülek

et al. 2012

j ocul biol dis inform

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Section: Discussionmentioning

confidence: 99%

“…It has been reported in 35-38 % of HHT cases and it is harmless being not accepted as an indicator of visceral involvement [1][2][3].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 88%

See 2 more Smart Citations

Hereditary hemorrhagic telangiectasia with multiple fusiform retinal aneurysms

Uğurlu

Emre

Yülek

et al. 2012

j ocul biol dis inform

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“…Lágrimas de sangue: relato de um caso Telma Gondim Freitas (1) Valter Justa (2) Eduardo J. C. Soares (3) Trabalho realizado no Centro Visual do Ceará (1) Residente de Oftalmologia do Instituto Penido Burnier. Campinas -SP.…”

Section: Relatos Curtosunclassified

Lágrimas de sangue: relato de um caso

Freitas¹,

Justa²,

Soares³

1999

Arq. Bras. Oftalmol.

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Endereço para correspondência: Telma Gondim Freitas. Centro Visual do Ceará. Rua Nogueira Acioli, 1146. Fortaleza (CE) CEP 60110-141. INTRODUÇÃOFenômeno clínico raro, as lágrimas de sangue constituem, indubitavelmente, uma das queixas oftalmológicas mais incomuns e alarmantes.Na literatura existem poucas referências sobre o assunto. O objetivo deste trabalho é relatar o caso de uma paciente que apresentou lágrimas de sangue e familiarizar o oftalmologista para o diagnóstico diferencial desta condição. DESCRIÇÃO DO CASOSNSC, 16 anos, feminina, branca, estudante. Procurou o serviço com queixa de perda de sangue vivo pelo olho esquerdo há 3 meses, algumas vezes correlacionada com o período menstrual.Ao exame oftalmológico encontrou-se acuidade visual de 20/20 em AO com correção (AO Esf. + 1,50). O exame do fundo do olho não mostrou alterações. A pressão intra-ocular era de 12 mmHg em AO. A biomicroscopia do segmento anterior: não evidenciou alterações no OD; no OE foi observada a presença de lágrimas sangüinolentas que surgiram após iniciada a consulta (Fig. 1).A paciente foi submetida aos seguintes exames na tentativa de elucidação diagnóstica:Exames clínicos otorrinolaringológico, ginecológico e vascular normais. Tomografia computadorizada não revelou qualquer anormalidade orbitária.Laparoscopia e ultra-sonografia pélvica normais (afastada endometriose pélvica).Exame histológico dos fundos de saco conjuntivais feito em segmento da mucosa obtida mediante ressecção de elipse de conjuntiva no fórnice conjuntival superior: afastada a presença de endometriose conjuntival; plexo vascular mais rico que o natural, apresentando alguns vasos varicosos.Pesquisa hematológica: afastada a possibilidade de discrasia sangüínea. Bloody tears: case reportOs autores relatam o caso de uma paciente que apresentou lágri-mas de sangue. Após ampla investigação diagnóstica nenhuma causa orgânica para o fenômeno foi encontrada. É abordado o diagnóstico diferencial desta condição clínica.

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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

Haitjema¹

1996

Arch Intern Med

113

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.

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Ocular Manifestations in Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)

Cited by 60 publications

References 14 publications

Hereditary hemorrhagic telangiectasia with multiple fusiform retinal aneurysms

Hereditary hemorrhagic telangiectasia with multiple fusiform retinal aneurysms

Lágrimas de sangue: relato de um caso

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)

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