Sampat Sindhar1, Bliss E O'Bryhim2, Jordan Licata1, Jay F Piccirillo1, Rajendra S Apte3. 1. Department of Otolaryngology-Head and Neck Surgery, Washington University in St. Louis, St. Louis, Missouri. 2. Department of Ophthalmology and Vision Science, Washington University in St. Louis, St. Louis, Missouri. 3. Department of Ophthalmology and Vision Science, Washington University in St. Louis, St. Louis, Missouri; Department of Medicine, Washington University in St. Louis, St. Louis, Missouri; Department of Developmental Biology, Washington University in St. Louis, St. Louis, Missouri. Electronic address: apte@wustl.edu.
Abstract
PURPOSE: To determine the presence and to characterize location of retinal vascular lesions in patients with hereditary hemorrhagic telangiectasia (HHT). DESIGN: Prospective cross-sectional pilot descriptive study. PARTICIPANTS: Eighteen patients (age range, 22-65 years) with a clinical diagnosis of HHT. METHODS: Patients completed the 25-item National Eye Institute Visual Function Questionnaire and underwent a single study visit with dilated ophthalmic examination, OCT angiography (OCTA), and fluorescein angiography (FA) with widefield imaging. MAIN OUTCOME MEASURES: Presence of retinal vascular abnormalities in 1 or more quadrants identified on widefield FA, Visual Function Questionnaire scores, retinal vessel architecture on FA and OCTA, and dilated ophthalmic examination findings. RESULTS: Of the 18 patients recruited, fine telangiectatic vessels with capillary dilation and tortuosity were identified in 78% by FA imaging. CONCLUSIONS: In the first FA and OCTA analysis of the retina of unrelated HHT patients, we found a high rate of temporal and nasal telangiectasias. These telangiectasias were more apparent in older patients, suggesting that they may appear in later stages of HHT development. No abnormalities of the macular vasculature and architecture were identified, explaining the generally well-preserved visual acuity. Temporal and nasal telangiectasias may have clinical significance in a patient's risk for retinal hemorrhage and likely warrant periodic surveillance by annual FA imaging.
PURPOSE: To determine the presence and to characterize location of retinal vascular lesions in patients with hereditary hemorrhagic telangiectasia (HHT). DESIGN: Prospective cross-sectional pilot descriptive study. PARTICIPANTS: Eighteen patients (age range, 22-65 years) with a clinical diagnosis of HHT. METHODS:Patients completed the 25-item National Eye Institute Visual Function Questionnaire and underwent a single study visit with dilated ophthalmic examination, OCT angiography (OCTA), and fluorescein angiography (FA) with widefield imaging. MAIN OUTCOME MEASURES: Presence of retinal vascular abnormalities in 1 or more quadrants identified on widefield FA, Visual Function Questionnaire scores, retinal vessel architecture on FA and OCTA, and dilated ophthalmic examination findings. RESULTS: Of the 18 patients recruited, fine telangiectatic vessels with capillary dilation and tortuosity were identified in 78% by FA imaging. CONCLUSIONS: In the first FA and OCTA analysis of the retina of unrelated HHTpatients, we found a high rate of temporal and nasal telangiectasias. These telangiectasias were more apparent in older patients, suggesting that they may appear in later stages of HHT development. No abnormalities of the macular vasculature and architecture were identified, explaining the generally well-preserved visual acuity. Temporal and nasal telangiectasias may have clinical significance in a patient's risk for retinal hemorrhage and likely warrant periodic surveillance by annual FA imaging.
Authors: Wasim A Samara; Emil A T Say; Chloe T L Khoo; Timothy P Higgins; George Magrath; Sandor Ferenczy; Carol L Shields Journal: Retina Date: 2015-11 Impact factor: 4.256
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: M E Faughnan; V A Palda; G Garcia-Tsao; U W Geisthoff; J McDonald; D D Proctor; J Spears; D H Brown; E Buscarini; M S Chesnutt; V Cottin; A Ganguly; J R Gossage; A E Guttmacher; R H Hyland; S J Kennedy; J Korzenik; J J Mager; A P Ozanne; J F Piccirillo; D Picus; H Plauchu; M E M Porteous; R E Pyeritz; D A Ross; C Sabba; K Swanson; P Terry; M C Wallace; C J J Westermann; R I White; L H Young; R Zarrabeitia Journal: J Med Genet Date: 2009-06-23 Impact factor: 6.318