The Spectrum of Ocular Alterations in Patients with β-Thalassemia Syndromes Suggests a Pathology Similar to Pseudoxanthoma Elasticum

Barteselli, Giulio; Dell’Arti, Laura; Finger, Robert P.; Issa, Peter Charbel; Marcon, Alessia; Vezzola, Diego; Mapelli, Chiara; Cassinerio, Elena; Cappellini, Maria Domenica; Ratiglia, Roberto

doi:10.1016/j.ophtha.2013.10.016

Cited by 45 publications

(43 citation statements)

References 39 publications

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“…33 The ABCC6 gene mutation is not seen in β-thalassemic individuals; however, Martin and colleagues demonstrated that erythroid transcription factor nuclear factor-E2 causes a gradual downregulation of ABCC6 gene expression and protein levels in a β-thalassemia mouse model. 12 ; 66 There was a 25% reduction in the levels of Abcc6 protein in the β-thalassemia mouse model at age 10 months. 66 Thus, β-thalassemic patients could have diminished ABCC6 gene expression leading to the PXE-like syndrome.…”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 96%

“…66 Thus, β-thalassemic patients could have diminished ABCC6 gene expression leading to the PXE-like syndrome. 12 ; 63 …”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

“…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 venous tortuosity (RVT) is considered the primary non-PXE like retinal abnormality found in β-thalassemia. 12 …”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

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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: 96%

“…66 Thus, β-thalassemic patients could have diminished ABCC6 gene expression leading to the PXE-like syndrome. 12 ; 63 …”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

“…Retinal venous tortuosity (RVT) is considered the primary non-PXE like retinal abnormality found in β-thalassemia. 12 …”

Section: Retinal Abnormalities In β-Thalassemia Major and Intermediamentioning

confidence: 99%

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Retinal abnormalities in β-thalassemia major

Dunaief

2016

Survey of Ophthalmology

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“…La edad de supervivencia mayor, y por tanto la mayor duració n de la hipoxia cró nica debida a anemia no dependiente de transfusiones en la talasemia intermedia, puede explicar que estos pacientes presenten má s severidad en la enfermedad sisté mica y un riesgo mayor de desarrollar el síndrome PXE-like ocular. La esplenectomía tambié n aparece como un factor de riesgo en el desarrollo de estrías angioides y apariencia de piel de naranja en el síndrome ocular PXE-like 20 .…”

Section: Discusió Nunclassified

Lesiones de pseudoxantoma elástico-like en paciente con beta talasemia

Vazquez¹,

Jaramillo²,

Steyls³

et al. 2015

Piel

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From membrane to mineralization: the curious case of the ABCC6 transporter

et al. 2020

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ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease pseudoxanthoma elasticum (PXE). Since then, the physiological and pathological roles of ABCC6 have been the subject of intense research. In the last 20 years, significant findings have clarified ABCC6 structure as well as its physiological role in mineralization homeostasis in humans and animal models. Yet, several facets of ABCC6 biology remain currently incompletely understood, ranging from the precise nature of its substrate(s) to the increasingly complex molecular genetics. Nonetheless, advances in our understanding of pathophysiological mechanisms causing mineralization lead to several treatment options being suggested or already tested in pilot clinical trials for ABCC6 deficiency. This review highlights current knowledge of ABCC6 and the challenges ahead, particularly the attempts to translate basic science into clinical practice.

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The Spectrum of Ocular Alterations in Patients with β-Thalassemia Syndromes Suggests a Pathology Similar to Pseudoxanthoma Elasticum

Cited by 45 publications

References 39 publications

Retinal abnormalities in β-thalassemia major

Retinal abnormalities in β-thalassemia major

Lesiones de pseudoxantoma elástico-like en paciente con beta talasemia

From membrane to mineralization: the curious case of the ABCC6 transporter

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