Purchase this article with an account.
Giulio Barteselli, Peter Charbel Issa, Laura Dell'Arti, Edoardo Villani, Laura Zanaboni, Maria D. Cappellini, Roberto Ratiglia, Francesco Viola; Retinal Phenotype In Patients With Thalassemia Major And Intermedia. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2197.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To determine the prevalence and the spectrum of retinal phenotypes in thalassemia major and intermedia.
In a prospective cross-sectional study, patients with β-thalassemia major and intermedia confirmed by mutation analysis were recruited in a tertiary referral center in Milan, Italy. All patients underwent best corrected visual acuity, indirect ophthalmoscopy and fundus photography. Confocal scanning laser ophthalmoscopy (Spectralis HRA-OCT) was used to document fundus abnormalities in the fundus autofluorescence and the near-infrared reflectance modes. In addition, blood levels of ferritin, AST-ALT and Calcium were assessed.
290 patients were examined: 182 (63%) with β-thalassemia major (TM) and 108 (37%) with β-thalassemia intermedia (TI). The mean (SD) age was 34 (±8) years for TM and 41 (±11) years for TI. Retinal abnormalities were evident in 105/290 patients (36%) and included angioid streaks (12%), peau d’orange (19%), retinal vessel tortuosity (16%), optic drusen (2%), choroidal neovascularization (1%) or macular changes on fundus autofluorescence (7%). TI showed a higher frequency of all phenotypes than TM. In TI, iron-chelating therapy was associated with a higher frequency of retinal abnormalities (p<0.001, Chi-Square Test). In TM, patients with retinal abnormalities showed higher levels of AST-ALT and ferritin (p<0.05, t-test for independent samples) and a longer history of chelating therapy (p<0.01, t-test for independent samples). The risk to develop retinal phenotypes increases with age.
To our knowledge, this is the largest and most comprehensive study that investigates the retinal abnormalities in patients with β-thalassemia reported to date. Retinal phenotypes in β-thalassemia are frequent, age-related and similar to those reported for PXE except for comet tail lesions. This suggests a common pathophysiological pathway leading to the characteristic fundus changes observed in patients with PXE and thalassemia. Retinal vessel tortuosity may present an additional disease manifestation independent from PXE-like fundus changes.
This PDF is available to Subscribers Only