Research progress of fundus changes in severe beta thalassemia_Chinese Journal of Ocular Fundus Diseases

Authors：

Li Wenwen , Chen Danna , Wei Yongcan , Zhao Quanwen ,  Zhao Guiling

Department of Ophthalmology, Affiliated Hospital of Guangdong Medical University, Guangzhou 524002, China;

Corresponding author：

Zhao Guiling, Email: zhaoguiling@qq.com

Keywords：

Thalassemia; Retina; Optic nerve; Fundus changes; Review

DOI：

10.3760/cma.j.cn511434-20230828-00358

Video：

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β thalassemia is a hereditary hemolytic disease caused by the defect of β globin gene. Transfusion-dependent β thalassemia patients need long-term blood transfusion to survive, and a series of systemic and ocular complications will occur in the disease itself and long-term blood transfusion. Retinal blood vessel density decreases, retinal thickness thinned and elastic pseudoxanthoxanoma syndrome are found in fundus due to long-term anemia and side effects of iron chelating agent. At present, there are few reports about eye changes in thalassemia patients, and the cognition is relatively scarce. Therefore, it is necessary to be vigilant for physicians, deeply explore the cause and symptomatic treatment, combined with individual disease characteristics, to provide a more scientific and accurate plan for clinical treatment.

Citation： Li Wenwen, Chen Danna, Wei Yongcan, Zhao Quanwen, Zhao Guiling. Research progress of fundus changes in severe beta thalassemia. Chinese Journal of Ocular Fundus Diseases, 2024, 40(4): 329-333. doi: 10.3760/cma.j.cn511434-20230828-00358 Copy

1.	中华医学会血液学分会红细胞疾病(贫血)学组. 中国输血依赖型β地中海贫血诊断与治疗指南(2022年版)[J]. 中华血液学杂志, 2022, 43(11): 889-896. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002.Red Blood Cell Diseases (Anemia) Group, Hematology Society, Chinese Medical Association. Chinese guideline for diagnosis and treatment of transfusion dependent β-thalassemia (2022)[J]. Chin J Hemat, 2022, 43(11): 889-896. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002.
2.	邵超鹏, 骆群, 伍昌林. 输血依赖型地中海贫血(TDT)患者临床输血中国专家共识[J]. 临床输血与检验, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002.Shao CP, Luo Q, Wu CL. Chinese expert consensus on clinical transfusion of transfusion-dependent thalassemia (TDT) patients[J]. J Clin Transfus Lab Med, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002.
3.	Akritidou F, Praidou A, Papamitsou T, et al. Ocular manifestations in patients with transfusion-dependent β-thalassemia[J]. Hippokratia, 2021, 25(2): 79-82.
4.	Suhana D, Krishnapada B, Madhumita B, et al. Retinal nerve fibre layer thinning in patients with thalassaemia, iron deficiency anaemia, and anaemia of chronic diseases[J/OL]. J Ophthalmol, 2020, 2020: 9268364[2020-11-18]. https://pubmed.ncbi.nlm.nih.gov/33282416/. DOI: 10.1155/2020/9268364.
5.	AttaAllah HR, Mousa SO, Omar IAN, et al. Correction to: macular microvascular changes in children with transfusion-dependent beta-thalassemia[J]. Graefe's Arch Clin Exp Ophthalmol, 2022, 260(4): 1431. DOI: 10.1007/s00417-022-05555-3.
6.	Cennamo G, Montorio D, Mazzella G, et al. Retinal and choriocapillaris vascular changes in patients affected by different clinical phenotypes of β-thalassemia: an optical coherence tomography angiography study[J]. Biology, 2021, 10(4): 276. DOI: 10.3390/biology10040276.
7.	Haghpanah S, Zekavat OR, Safaei S, et al. Optical coherence tomography findings in patients with transfusion-dependent β-thalassemia[J]. BMC Ophthalmol, 2022, 22(1): 279. DOI: 10.1186/s12886-022-02490-z.
8.	Kurnia KH, Elvioza, Sidik M, et al. Novel retinal findings in β-thalassemia major: older age and higher ferritin level as the risk factors[J]. Graefe's Arch Clin Exp Ophthalmol, 2021, 259(9): 2633-2641. DOI: 10.1007/s00417-021-05141-z.
9.	Georgalas I, Makris G, Papaconstantinou D, et al. A pilot optical coherence tomography angiography study on superficial and deep capillary plexus foveal avascular zone in patients with beta-thalassemia major[J]. Invest Ophthalmol Vis Sci, 2019, 60(12): 3887-3896. DOI: 10.1167/iovs.19-27291.
10.	Di Nicola M, Barteselli G, Dell'Arti L, et al. Functional and structural abnormalities in deferoxamine retinopathy: a review of the literature[J/OL]. Biomed Res Int, 2015, 2015: 249617[2015-06-08]. https://pubmed.ncbi.nlm.nih.gov/26167477/. DOI: 10.1155/2015/249617.
11.	Georgakopoulos CD, Tsapardoni F, Kostopoulou EV, et al. Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature[J]. BMC Ophthalmol, 2018, 18(1): 246. DOI: 10.1186/s12886-018-0911-2.
12.	Wu CH, Yang CP, Lai CC, et al. Deferoxamine retinopathy: spectral domain-optical coherence tomography findings[J]. BMC Ophthalmol, 2014, 14(1): 88. DOI: 10.1186/1471-2415-14-88.
13.	Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassemia[J]. Blood, 1997, 89(3): 739-761. DOI: 10.1182/blood.V89.3.739.
14.	El-Shazly AA, Ebeid WM, Elkitkat RS, et al. Electroretinographic and visual-evoked potential changes in relation to chelation modality in children with thalassemia[J]. Retina, 2017, 37(6): 1168-1175. DOI: 10.1097/IAE.0000000000001315.
15.	Borgna-Pignatti C, Gamberini MR. Complications of thalassemia major and their treatment[J]. Expert Rev Hematol, 2011, 4(3): 353-366. DOI: 10.1586/ehm.11.29.
16.	Barteselli G, Dell'arti L, Finger RP, et al. The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum[J]. Ophthalmology, 2014, 121(3): 709-718. DOI: 10.1016/j.ophtha.2013.10.016.
17.	Incorvaia C, Parmeggiani F, Costagliola C, et al. Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by beta-thalassaemia major[J]. Eye (Lond), 2003, 17(3): 324-329. DOI: 10.1038/sj.eye.6700352.
18.	Stultz RD, Conti FF, Kumar JB, et al. Beta-thalassemia minor manifesting as proliferative retinopathy[J/OL]. Ophthalmic Surg Lasers Imaging Retina, 2018, 49(10): e161-e164[2018-10-01]. https://pubmed.ncbi.nlm.nih.gov/30395680/. DOI: 10.3928/23258160-20181002-22.
19.	Abraham A. Bull's eye maculopathy possibly due to iron overload in a child with thalassemia major: a case of possible "ferritin retinopathy"[J]. Retin Cases Brief Rep, 2021, 15(4): 482-485. DOI: 10.1097/ICB.0000000000000834.
20.	Aksoy A, Aslan L, Aslankurt M, et al. Retinal fiber layer thickness in children with thalessemia major and iron deficiency anemia[J]. Semin Ophthalmol, 2014, 29(1): 22-26. DOI: 10.3109/08820538.2013.839811.
21.	Arifoglu HB, Kucuk B, Duru N, et al. Assessing posterior ocular structures in β-thalassemia minor[J]. Int Ophthalmol, 2018, 38(1): 119-125. DOI: 10.1007/s10792-016-0431-0.
22.	Pakdel F, Pirmarzdashty N, Sanjari MS, et al. Optic atrophy in thalassemia intermedia[J]. J Neuroophthalmol, 2011, 31(3): 252-254. DOI: 10.1097/WNO.0b013e31821ee59d.
23.	Sorcinelli R, Cacace E, Del Piano M. Optic nerve compression by extramedullary hematopoietic tissue in a patient suffering from beta-thalassemia intermedia[J]. Metab Pediatr Syst Ophthalmol, 1999, 22: 5-6.
24.	Heydarian S, Jafari R, Dailami KN, et al. Ocular abnormalities in beta thalassemia patients: prevalence, impact, and management strategies[J]. Int Ophthalmol, 2020, 40(2): 511-527. DOI: 10.1007/s10792-019-01189-3. DOI: 10.1007/s10792-019-01189-3.
25.	Simsek A, Tekin M, Bilak S, et al. Choroidal thickness in children with beta thalassemia major[J]. Optom Vis Sci, 2016, 93(6): 600-606. DOI: 10.1097/OPX.0000000000000833.
26.	AttaAllah HR, Mousa SO, Omar IAN. Macular microvascular changes in children with transfusion-dependent beta-thalassemia[J]. Graefe's Arch Clin Exp Ophthalmol, 2021, 259(11): 3283-3293. DOI: 10.1007/s00417-021-05275-0.
27.	Kiarudi MY, Fadakar K, Mousavi E. Bilateral choroidal neovascularization in a patient with beta-thalassemia major and its management[J]. Retin Cases Brief Rep, 2018, 12(3): 224-227. DOI: 10.1097/ICB.0000000000000460.
28.	Bhoiwala DL, Dunaief JL.Retinal abnormalities in β-thalassemia major[J]. Surv Ophthalmol, 2016, 61(1): 33-50. DOI: 10.1016/j.survophthal.2015.08.005.
29.	Baig R, Zahid N, Kausar F, et al. Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study[J/OL]. BMJ Open Ophthalmol, 2023, 8(1): e001293[2023-07-01]. https://pubmed.ncbi.nlm.nih.gov/37493812/. DOI: 10.1136/bmjophth-2023-001293.
30.	中华医学会医学遗传学分会遗传病临床实践指南撰写组. β-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004.Genetic Disease Clinical Practice Guideline Writing Group, Chinese Medical Association Branch of Medical Genetics. Clinical practice guidelines for β-thalassemia[J]. Chin J Medl Genet, 2020, 37(3): 243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004.

1. 中华医学会血液学分会红细胞疾病(贫血)学组. 中国输血依赖型β地中海贫血诊断与治疗指南(2022年版)[J]. 中华血液学杂志, 2022, 43(11): 889-896. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002.Red Blood Cell Diseases (Anemia) Group, Hematology Society, Chinese Medical Association. Chinese guideline for diagnosis and treatment of transfusion dependent β-thalassemia (2022)[J]. Chin J Hemat, 2022, 43(11): 889-896. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002.
2. 邵超鹏, 骆群, 伍昌林. 输血依赖型地中海贫血(TDT)患者临床输血中国专家共识[J]. 临床输血与检验, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002.Shao CP, Luo Q, Wu CL. Chinese expert consensus on clinical transfusion of transfusion-dependent thalassemia (TDT) patients[J]. J Clin Transfus Lab Med, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002.
3. Akritidou F, Praidou A, Papamitsou T, et al. Ocular manifestations in patients with transfusion-dependent β-thalassemia[J]. Hippokratia, 2021, 25(2): 79-82.
4. Suhana D, Krishnapada B, Madhumita B, et al. Retinal nerve fibre layer thinning in patients with thalassaemia, iron deficiency anaemia, and anaemia of chronic diseases[J/OL]. J Ophthalmol, 2020, 2020: 9268364[2020-11-18]. https://pubmed.ncbi.nlm.nih.gov/33282416/. DOI: 10.1155/2020/9268364.
5. AttaAllah HR, Mousa SO, Omar IAN, et al. Correction to: macular microvascular changes in children with transfusion-dependent beta-thalassemia[J]. Graefe's Arch Clin Exp Ophthalmol, 2022, 260(4): 1431. DOI: 10.1007/s00417-022-05555-3.
6. Cennamo G, Montorio D, Mazzella G, et al. Retinal and choriocapillaris vascular changes in patients affected by different clinical phenotypes of β-thalassemia: an optical coherence tomography angiography study[J]. Biology, 2021, 10(4): 276. DOI: 10.3390/biology10040276.
7. Haghpanah S, Zekavat OR, Safaei S, et al. Optical coherence tomography findings in patients with transfusion-dependent β-thalassemia[J]. BMC Ophthalmol, 2022, 22(1): 279. DOI: 10.1186/s12886-022-02490-z.
8. Kurnia KH, Elvioza, Sidik M, et al. Novel retinal findings in β-thalassemia major: older age and higher ferritin level as the risk factors[J]. Graefe's Arch Clin Exp Ophthalmol, 2021, 259(9): 2633-2641. DOI: 10.1007/s00417-021-05141-z.
9. Georgalas I, Makris G, Papaconstantinou D, et al. A pilot optical coherence tomography angiography study on superficial and deep capillary plexus foveal avascular zone in patients with beta-thalassemia major[J]. Invest Ophthalmol Vis Sci, 2019, 60(12): 3887-3896. DOI: 10.1167/iovs.19-27291.
10. Di Nicola M, Barteselli G, Dell'Arti L, et al. Functional and structural abnormalities in deferoxamine retinopathy: a review of the literature[J/OL]. Biomed Res Int, 2015, 2015: 249617[2015-06-08]. https://pubmed.ncbi.nlm.nih.gov/26167477/. DOI: 10.1155/2015/249617.
11. Georgakopoulos CD, Tsapardoni F, Kostopoulou EV, et al. Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature[J]. BMC Ophthalmol, 2018, 18(1): 246. DOI: 10.1186/s12886-018-0911-2.
12. Wu CH, Yang CP, Lai CC, et al. Deferoxamine retinopathy: spectral domain-optical coherence tomography findings[J]. BMC Ophthalmol, 2014, 14(1): 88. DOI: 10.1186/1471-2415-14-88.
13. Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassemia[J]. Blood, 1997, 89(3): 739-761. DOI: 10.1182/blood.V89.3.739.
14. El-Shazly AA, Ebeid WM, Elkitkat RS, et al. Electroretinographic and visual-evoked potential changes in relation to chelation modality in children with thalassemia[J]. Retina, 2017, 37(6): 1168-1175. DOI: 10.1097/IAE.0000000000001315.
15. Borgna-Pignatti C, Gamberini MR. Complications of thalassemia major and their treatment[J]. Expert Rev Hematol, 2011, 4(3): 353-366. DOI: 10.1586/ehm.11.29.
16. Barteselli G, Dell'arti L, Finger RP, et al. The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum[J]. Ophthalmology, 2014, 121(3): 709-718. DOI: 10.1016/j.ophtha.2013.10.016.
17. Incorvaia C, Parmeggiani F, Costagliola C, et al. Quantitative evaluation of the retinal venous tortuosity in chronic anaemic patients affected by beta-thalassaemia major[J]. Eye (Lond), 2003, 17(3): 324-329. DOI: 10.1038/sj.eye.6700352.
18. Stultz RD, Conti FF, Kumar JB, et al. Beta-thalassemia minor manifesting as proliferative retinopathy[J/OL]. Ophthalmic Surg Lasers Imaging Retina, 2018, 49(10): e161-e164[2018-10-01]. https://pubmed.ncbi.nlm.nih.gov/30395680/. DOI: 10.3928/23258160-20181002-22.
19. Abraham A. Bull's eye maculopathy possibly due to iron overload in a child with thalassemia major: a case of possible "ferritin retinopathy"[J]. Retin Cases Brief Rep, 2021, 15(4): 482-485. DOI: 10.1097/ICB.0000000000000834.
20. Aksoy A, Aslan L, Aslankurt M, et al. Retinal fiber layer thickness in children with thalessemia major and iron deficiency anemia[J]. Semin Ophthalmol, 2014, 29(1): 22-26. DOI: 10.3109/08820538.2013.839811.
21. Arifoglu HB, Kucuk B, Duru N, et al. Assessing posterior ocular structures in β-thalassemia minor[J]. Int Ophthalmol, 2018, 38(1): 119-125. DOI: 10.1007/s10792-016-0431-0.
22. Pakdel F, Pirmarzdashty N, Sanjari MS, et al. Optic atrophy in thalassemia intermedia[J]. J Neuroophthalmol, 2011, 31(3): 252-254. DOI: 10.1097/WNO.0b013e31821ee59d.
23. Sorcinelli R, Cacace E, Del Piano M. Optic nerve compression by extramedullary hematopoietic tissue in a patient suffering from beta-thalassemia intermedia[J]. Metab Pediatr Syst Ophthalmol, 1999, 22: 5-6.
24. Heydarian S, Jafari R, Dailami KN, et al. Ocular abnormalities in beta thalassemia patients: prevalence, impact, and management strategies[J]. Int Ophthalmol, 2020, 40(2): 511-527. DOI: 10.1007/s10792-019-01189-3. DOI: 10.1007/s10792-019-01189-3.
25. Simsek A, Tekin M, Bilak S, et al. Choroidal thickness in children with beta thalassemia major[J]. Optom Vis Sci, 2016, 93(6): 600-606. DOI: 10.1097/OPX.0000000000000833.
26. AttaAllah HR, Mousa SO, Omar IAN. Macular microvascular changes in children with transfusion-dependent beta-thalassemia[J]. Graefe's Arch Clin Exp Ophthalmol, 2021, 259(11): 3283-3293. DOI: 10.1007/s00417-021-05275-0.
27. Kiarudi MY, Fadakar K, Mousavi E. Bilateral choroidal neovascularization in a patient with beta-thalassemia major and its management[J]. Retin Cases Brief Rep, 2018, 12(3): 224-227. DOI: 10.1097/ICB.0000000000000460.
28. Bhoiwala DL, Dunaief JL.Retinal abnormalities in β-thalassemia major[J]. Surv Ophthalmol, 2016, 61(1): 33-50. DOI: 10.1016/j.survophthal.2015.08.005.
29. Baig R, Zahid N, Kausar F, et al. Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study[J/OL]. BMJ Open Ophthalmol, 2023, 8(1): e001293[2023-07-01]. https://pubmed.ncbi.nlm.nih.gov/37493812/. DOI: 10.1136/bmjophth-2023-001293.
30. 中华医学会医学遗传学分会遗传病临床实践指南撰写组. β-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004.Genetic Disease Clinical Practice Guideline Writing Group, Chinese Medical Association Branch of Medical Genetics. Clinical practice guidelines for β-thalassemia[J]. Chin J Medl Genet, 2020, 37(3): 243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004.

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Research progress of fundus changes in severe beta thalassemia

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