Pseudoxanthoma elasticum and angioid streaks in two cases ofβ-thalassaemia

Aesopos, A.; Stamatelos, G.; Savvides, P.; Rombos, Ioannis; Tassiopoulos, T; Kaklamanis, Phaedon

doi:10.1007/bf02032108

Cited by 9 publications

(4 citation statements)

References 14 publications

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“…33 ; 37 Various studies from the early 1990s demonstrated similar ocular manifestations in β-thalassemia and PXE. 1 ; 6 ; 12 ; 15 ; 51 Aessopos and colleagues established the terms “PXE-like-lesion” and “PXE-like syndrome” to help differentiate PXE from acquired PXE-like syndrome findings. 5 PXE-like syndrome refers to the following retinal abnormalities: angioid streaks, peau d'orange, and optic disc drusen development.…”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

Retinal abnormalities in β-thalassemia major

Dunaief

2016

Survey of Ophthalmology

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Patients with beta (β)-thalassemia (β-TM: thalassemia major, β-TI: thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelium degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-TM are transfusion dependent and require iron chelation therapy (ICT) in order to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by ICT. Some who were never treated with ICT exhibited retinopathy, and others receiving ICT had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-TM viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity.

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Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

Retinal abnormalities in β-thalassemia major

Dunaief

2016

Survey of Ophthalmology

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“…The first report of two patients affected by thalassemia and coexistent Pseudoxanthoma elasticum (PXE) was published by Aessopos and colleagues in 1989 35 . Several subsequent reports have confirmed the existence of a clinical syndrome resembling PXE in patients with thalassemia intermedia and other haemolytic conditions 36,37 …”

Section: Pseudoxanthoma Elasticummentioning

confidence: 99%

The natural history of thalassemia intermedia

Borgna‐Pignatti

Marsella

Zanforlin

2010

Annals of the New York Academy of Sciences

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The severity of thalassemia intermedia depends on the degree of imbalance between alpha and non-alpha chains as well as other genetic and environmental factors that modify the natural history of the disease. By definition, the patients spontaneously maintain hemoglobin at or above 7 g/dL, sometimes at the price of intense hyperplasia of the bone marrow that is in turn responsible for bone deformities, osteoporosis, and extramedullary erythropoietic masses that often characterize thalassemia intermedia. Transfusion may become necessary with advancing age, during infection and pregnancy, and when hypersplenism develops. Splenectomy is often needed. Iron overload in nontransfused patients is due to increased gastrointestinal absorption and involves mainly the liver. Complications affecting the lives of patients with thalassemia intermedia include pulmonary hypertension, leg ulcers, pseudoxanthoma elasticum, gallstones, hepatocellular carcinoma, and thromboembolic events.

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“…The first report suggesting a link between beta-thal and PXE was based on the observation that angioid streaks were actually present in both diseases (Aesopos et al, 1989). Subsequent studies confirmed that PXE-like syndrome in beta-thalassemias and SCD, although less severe, is histopathologically and clinically identical to inherited PXE consisting of indistinguishable cutaneous, ocular and vascular abnormalities due to elastic fibre calcification (BaccaraniContri et al, 2001;Bercovitch & Terry, 2004;Hamlin et al, 2003) (Figure 9).…”

Section: Genetic Conditionsmentioning

confidence: 96%