BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a systemic disorder of the fibrovascular tissue. Few data have been published on the frequency of ophthalmologic manifestations. The aim of this study was to assess this frequency. METHODS: A prospective observational cross-sectional study was conducted in a multitude of clinical practices and in a tertiary referral center. The main outcome measure was the number of vascular malformations detected by an ophthalmologic inspection of the retina and the conjunctivae in both eyes in a random sample of patients with HHT. RESULTS: No retinal telangiectases were observed in any of the 75 patients (150 eyes) examined. Conjunctival telangiectases were detected in 28 of 74 patients (47 of 148 eyes). CONCLUSIONS: The prevalence of retinal telangiectases seems to be lower than 1/75 (< 1.3%). This data does not justify screening procedures to detect retinal telangiectases. Ophthalmologists should be aware of the symptoms of HHT and its systemic character.
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a systemic disorder of the fibrovascular tissue. Few data have been published on the frequency of ophthalmologic manifestations. The aim of this study was to assess this frequency. METHODS: A prospective observational cross-sectional study was conducted in a multitude of clinical practices and in a tertiary referral center. The main outcome measure was the number of vascular malformations detected by an ophthalmologic inspection of the retina and the conjunctivae in both eyes in a random sample of patients with HHT. RESULTS: No retinal telangiectases were observed in any of the 75 patients (150 eyes) examined. Conjunctival telangiectases were detected in 28 of 74 patients (47 of 148 eyes). CONCLUSIONS: The prevalence of retinal telangiectases seems to be lower than 1/75 (< 1.3%). This data does not justify screening procedures to detect retinal telangiectases. Ophthalmologists should be aware of the symptoms of HHT and its systemic character.
Authors: C L Shovlin; A E Guttmacher; E Buscarini; M E Faughnan; R H Hyland; C J Westermann; A D Kjeldsen; H Plauchu Journal: Am J Med Genet Date: 2000-03-06
Authors: Charles Van Went; A Ozanne; G Saliou; G Dethorey; I De Monchy; T Krings; D Ducreux; M Labetoulle Journal: Interv Neuroradiol Date: 2011-12-16 Impact factor: 1.610
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