Retin Cases Brief Rep 2011 Jan 01;54:339-42. doi: 10.1097/ICB.0b013e3181ff0979.

PERIPHERAL VASCULAR ABNORMALITIES IN β-THALASSEMIA MAJOR DETECTED BY ULTRA WIDE-FIELD FUNDUS IMAGING.

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PURPOSE: To describe peripheral retinal vascular abnormalities in two patients with β-thalassemia major. METHODS: Visual acuity testing, slit-lamp biomicroscopy, dilated fundus examination, ultra wide-field fundus photography, and fluorescein angiography were performed in two consecutive patients with β-thalassemia major. RESULTS: Both patients had excellent visual acuity (20/20 and 20/25). Anterior segment examination was unremarkable. There were no lenticular changes noted in either patient. Dilated fundus examination was only remarkable for peripheral neovascular changes with preretinal hemorrhage in one patient and white without pressure in the other patient. Ultra wide-field fluorescein angiography revealed peripheral ischemia, vascular remodeling, active neovascularization, and arteriovenous anastomosis at the junction of perfused and nonperfused peripheral retina. One patient had sea fan neovascularization with active vitreous hemorrhage requiring peripheral laser photocoagulation. CONCLUSION: As with patients with sickle cell disorder, patients with β-thalassemia major may require surveillance for peripheral vascular abnormalities, with treatment of these abnormalities before they result in permanent visual loss.

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Genes referenced: LOC100887844 LOC115919910