Ocular Abnormalities in Patients with β Thalassemia

Gartaganis, Sotirios P.; Ismiridis, Konstantinos; Papageorgiou, Ourania; Beratis, Nicholas G.; Papanastasiou, Dimitris A.

doi:10.1016/0002-9394(89)90864-7

Cited by 43 publications

(47 citation statements)

References 20 publications

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“…According to previous observations, 2,3,12,16 our findings also demonstrate the lack of any correlation between increased RVT, serum ferritin level, and DFX dosage (Table 2).…”

Section: Discussionsupporting

confidence: 85%

“…[18][19][20][21][22][23][24] Retinal abnormalities, including venous tortuosity and engorgement, have long been observed to be associated with anaemia. 1,[14][15][16] Although there are previous studies demonstrating the occurrence of increased RVT in patients affected by several forms of chronic anaemia, 2,3,12 in none of these studies had a quantitative evaluation of this tortuosity been performed. Aisen et al 16 measured the main retinal venous length in a heterogeneous group of anaemic patients, comparing this datum to that recorded in a normal population.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Some of these alterations, such as cataracts, 4 optic neuropathy, [5][6][7] visual field defects, 5,[8][9][10] visual electrophysiological changes, 7-11 colour vision abnormalities [6][7][8]11,12 and decreased visual acuity, [5][6][7][8] have been described in the course of iron chelation therapy with Desferrioxamine (DFX). Other more common ophthalmoscopic changes like degeneration of the retinal pigment epithelium, 2,[6][7][8][9][10]12 angioid streaks, 2,13 retinal microvascular abnormalities, 1 and venous tortuosity 2,10 seem to be independent from DFX treatment.…”

Section: Introductionmentioning

confidence: 99%

“…The venous tortuosity and engorgement, observed in patients affected by b-thalassaemia major, have been documented throughout both subjective clinical observations 2,14,15 and objective method, which measured the length of the four main venous retinal branches. 16 However, in anaemic patients RVT has also been reported in the absence of other retinal changes.…”

Section: Introductionmentioning

confidence: 99%

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Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by β-thalassaemia major

Incorvaia

Parmeggiani

Costagliola

et al. 2003

Eye

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Aims Retinal venous tortuosity (RVT) is a common finding in patients affected by different forms of chronic anaemia. The aims of this study were to quantify RVT in anaemic patients with ß-thalassaemia major and to verify whether it is related to some of the following parameters: patient's age, ferritin plasma level, and Desferrioxamine (DFX) daily dosage. Methods A retrospective study was carried out. In total, 36 consecutive thalassaemic patients, treated with polytransfusion regimen and DFX, were age-and sex-matched with a control group of 36 normal subjects. All subjects bilaterally underwent red-free fundus photography, centred on the optic disc. The four main retinal veins were measured with a computer-assisted method. Results Mean venous length in the thalassaemic group was significantly greater than that observed in the control group (Po0.001). In thalassaemic patients, no significant correlations between retinal venous length and, respectively, plasma ferritin level and DFX daily dosage were documented. Statistical analysis demonstrated a very significant association between patient's age and increased RVT only in thalassaemic patients (Po0.001). Conclusions Our findings demonstrate that patients with b-thalassaemia major have increased RVT, as compared to normal subjects. In this selected anaemic population, patient's age, closely related to anaemia duration, is the only variable responsible for the RVT increment. This clinical sign indicates a long-standing duration of anaemia.

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“…According to previous observations, 2,3,12,16 our findings also demonstrate the lack of any correlation between increased RVT, serum ferritin level, and DFX dosage (Table 2).…”

Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by β-thalassaemia major

Incorvaia

Parmeggiani

Costagliola

et al. 2003

Eye

View full text Add to dashboard Cite

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“…16 Others have previously reached similar conclusions based on clinical observations, but none of these studies have established an association between the most evident characteristics of ␤-thalassemia (hemoglobin, serum ferritin levels, or even chelation therapies) and elastic fiber calcification. 2,[33][34][35][36][37][38][39] More recently, iron overload of tissues and associated oxidative stress found in hemolytic disorders was proposed as a potential effector of elastic fiber damage, notably in ␤-thalassemia. Indeed, excess of iron impairs February 2011, Vol.…”

Section: Discussionmentioning

confidence: 99%

A Mouse Model of β-Thalassemia Shows a Liver-Specific Down-Regulation of Abcc6 Expression

Martin

Douet

VanWart

et al. 2011

The American Journal of Pathology

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␤-Thalassemia and pseudoxanthoma elasticum (PXE) are distinct genetic disorders. Yet, a dystrophic mineralization phenotype similar to PXE has frequently been associated with ␤-thalassemia or sickle cell anemia patients of Mediterranean descent. These calcifications are clinically and structurally identical to inherited PXE. As we previously excluded the presence of PXE-causing mutations in the ABCC6 gene of ␤-thalassemia patients with PXE manifestations, we hypothesized that a molecular mechanism independent of gene mutations either altered the ABCC6 gene expression or disrupted the biologic properties of its product in the liver or kidneys, which are the tissues with the highest levels of expression. To test this possibility, we investigated Abcc6 synthesis in the liver and kidneys of a ␤-thalassemia mouse model (Hbb th3/؉ ). We found a progressive liver-specific down-regulation of the Abcc6 gene expression and protein levels by quantitative PCR, Western blotting, and immunofluorescence. The levels of Abcc6 protein decreased significantly at 6 months of age and stabilized at 10 months and older ages at ϳ25% of the wild-type protein levels. We studied the transcriptional regulation of the Abcc6 gene in wild-type and Hbb th3/؉ mice, and we identified the erythroid transcription factor NF-E2 as the main cause of the transcriptional down-regulation using transcription factor arrays and chromatin immunoprecipitation. The Hbb th3/؉ mice did not develop spontaneous calcification as seen in the Abcc6 ؊/؊ mice probably because the Abcc6 protein decrease occurred late in life and was probably insufficient to promote mineralization in the Hbb th3/؉ mouse C57BL/6J genetic background. Nevertheless, our result suggested that a similar decrease of ABCC6 expression occurs in the liver of ␤-thalassemia patients and may be responsible for their frequent PXE-like manifestations.

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Angioid Streaks

Starr

Chen

et al. 2022

Albert and Jakobiec's Principles and Practice of Ophthalmology

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Ocular Abnormalities in Patients with β Thalassemia

Cited by 43 publications

References 20 publications

Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by β-thalassaemia major

Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by β-thalassaemia major

A Mouse Model of β-Thalassemia Shows a Liver-Specific Down-Regulation of Abcc6 Expression

Angioid Streaks

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