Afectación ocular en la enfermedad de Rendu-Osler-Weber: características y asociaciones

Abstract

BACKGROUND: Hereditary hemorrhagic telangiectasia is a rare hereditary disorder with several organs involved causing telangiectasias and arteriovenous malformations. There are few published works about ocular involvement. MATERIAL AND METHODS: We have made a cross-sectional study with 206 patients included in HHT Unit database at Sierrallana Hospital in Torrelavega (Cantabria, Spain). These patients had been explored by ophthalmologist between 2003 and 2013. RESULTS: All lesions that we have found are conjunctival telangiectasias without any vascular retinal malformations. The prevalence of conjunctival telangiectasias is 50,95%. The average age of patients with ocular lesions is higher regardless of their sex and there no differences among patients into the same age group. Ocular involvement is linked to ENG gene mutations. Conjunctival and finger telangiectasias are related, and there is an association between conjuntival lessions and positive capilaroscopy, oral mucous and nose skin hemorrhage, II Sadick´s degree of epistaxis and III and IV VAMp degree according to TTCE. CONCLUSIONS: The most common ocular lesions in HHT are conjunctival telangiectasias, specifically HHT1 subtype. They are not a serious problem and they are not useful as a sign in these patients´ clinical evaluation, that´s why no ophthalmologic examination is necessary.