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Retinal Manifestations in Hematological Disorders

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Retinal and Choroidal Imaging in Systemic Diseases

Abstract

Red blood cell, white blood cell, and platelet disorders often lead to a large variety of hematologic effects in ocular tissues, and especially in the retina. Although retinal findings may not be pathognomonic of a specific blood disorder, ophthalmologists can directly visualize characteristic retinal changes and be the first to diagnose a blood dyscrasia. Typical findings on indirect ophthalmoscopy are retinal hemorrhages, microaneurysms, hard exudates, cotton wool spots, macular edema, retinal vascular edema, pallor of the disc, edema of the disc, retinal and optic disc neovascularization, vitreous hemorrhage and inflammation, retinal and retinal pigment epithelium detachment, and retinal and choroidal infiltrates. Other retinal findings may be more indicative of a specific blood disorder, such as thalassemia or sickle cell disease. High-resolution imaging can help ophthalmologists in the detection of early retinal changes or more peculiar findings and can guide physicians in an early diagnosis of a specific blood dyscrasia.

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References

  1. Hoffbrand AV, Moss PAH, Pettit JE. Essential hematology. 5th ed. Hoboken, NJ: Blackwell Publishing; 2006.

    Google Scholar 

  2. Elagouz M, Jyothi S, Gupta B, et al. Sickle cell disease and the eye: old and new concepts. Surv Ophthalmol. 2010;55:359–77.

    Article  PubMed  Google Scholar 

  3. Jameson JN, Kasper DL, Harrison TR, et al. Harrison’s principles of internal medicine. NewYork: McGraw-Hill Medical Publishing Division; 2005.

    Google Scholar 

  4. Robbins SL, Vinay K, Abul KA, et al. Robbins and cotran pathologic basis of disease. 8th ed. Philadelphia: WB Saunders Company; 2010.

    Google Scholar 

  5. Porter RS. The Merck manual. 19th ed. Kenilworth, NJ: Merk & Co.; 2011.

    Google Scholar 

  6. Bhoiwala DL, Dunaief JL. Retinal abnormalities in β-thalassemia major. Surv Ophthalmol. 2016;61:33–50.

    Article  PubMed  Google Scholar 

  7. Gartaganis S, Ismiridis K, Papageorgiou O, et al. Ocular abnormalities in patients with beta thalassemia. Am J Ophthalmol. 1989;108:699–703.

    Article  CAS  PubMed  Google Scholar 

  8. Sorcinelli R, Sitzia A, Figus A, et al. Ocular findings in beta-thalassemia. Metab Pediatr Syst Ophthalmol. 1990;13:23–5.

    CAS  Google Scholar 

  9. Taher A, Bashshur Z, Shamseddeen WA, et al. Ocular findings among thalassemia patients. Am J Ophthalmol. 2006;142:704–5.

    Article  PubMed  Google Scholar 

  10. Barteselli G, Dell’Arti L, Finger RP, et al. The spectrum of ocular alterations in patients with beta-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. Ophthalmology. 2014;121:709–18.

    Article  PubMed  Google Scholar 

  11. Martin L, Douet V, VanWart CM, et al. A mouse model of beta-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Am J Pathol. 2011;178:774–83.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Di Nicola M, Barteselli G, Dell’Arti L, et al. Functional and structural abnormalities in Deferoxamine retinopathy: a review of the literature. Biomed Res Int. 2015;2015:249617.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Viola F, Barteselli G, Dell’Arti L, et al. Multimodal imaging in deferoxamine retinopathy. Retina. 2014;34:1428–38.

    Article  PubMed  Google Scholar 

  14. Viola F, Barteselli G, Dell'Arti L, et al. Abnormal fundus autofluorescence results of patients in long-term treatment with deferoxamine. Ophthalmology. 2012;119:1693–700.

    Article  PubMed  Google Scholar 

  15. Welch RB, Goldberg MF. Sickle-cell hemoglobin and its relation to fundus abnormality. Arch Ophthalmol. 1966;75:353–62.

    Article  CAS  PubMed  Google Scholar 

  16. Galinos SO, Asdourian GK, Woolf MB, et al. Spontaneous remodelling of the peripheral retinal vasculature in sickling disorders. Am J Ophthalmol. 1975;79:853–70.

    Article  CAS  PubMed  Google Scholar 

  17. Witkin AJ, Rogers AH, Ko TH, et al. Optical coherence tomography demonstration of macular infarction in sickle cell retinopathy. Arch Ophthalmol. 2006;124:746–7.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Mathew R, Bafiq R, Ramu J, et al. Spectral domain optical coherence tomography in patients with sickle cell disease. Br J Ophthalmol. 2015;99:967–72.

    Article  PubMed  Google Scholar 

  19. Chow CC, Genead MA, Anastasakis A, Chau FY, Fishman GA, Lim JI. Structural and functional correlation in sickle cell retinopathy using spectral-domain optical coherence tomography and scanning laser ophthalmoscope microperimetry. Am J Ophthalmol. 2011;152:704–11.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Gagliano DA, Goldberg MF. The evolution of salmon-patch hemorrhages in sickle cell retinopathy. Arch Ophthalmol. 1989;107:1814–5.

    Article  CAS  PubMed  Google Scholar 

  21. Gill HS, Lam WC. A screening strategy for the detection of sickle cell retinopathy in pediatric patients. Can J Ophthalmol. 2008;43:188–91.

    Article  PubMed  Google Scholar 

  22. Goldberg MF. Natural history of untreated proliferative sickle retinopathy. Arch Ophthalmol. 1971;85:428–37.

    Article  CAS  PubMed  Google Scholar 

  23. Downes SM, Hambleton IR, Chuang EL, et al. Incidence and natural history of proliferative sickle cell retinopathy: observations from a cohort study. Ophthalmology. 2005;112:1869–75.

    Article  PubMed  Google Scholar 

  24. Myint KT, Sahoo S, Thein AW, et al. Laser therapy for retinopathy in sickle cell disease. Cochrane Database Syst Rev. 2015:9–10. DOI: 10.1002/14651858.CD010790.pub2.

  25. Reynolds SA, Besada E, Winter-Corella C. Retinopathy in patients with sickle cell trait. Optometry. 2007;78:582–7.

    Article  PubMed  Google Scholar 

  26. Nagpal KC, Asdourian GK, Patrianakos D, et al. Proliferative retinopathy in sickle cell trait. Arch Intern Med. 1977;137:325–8.

    Article  CAS  PubMed  Google Scholar 

  27. Paton D. The conjunctival sign of sickle cell disease. Arch Ophthalmol. 1961;66:90–4.

    Article  CAS  PubMed  Google Scholar 

  28. Rosenthal AR. Ocular manifestations of leukemia. A review. Ophthalmology. 1983;90:899–905.

    Article  CAS  PubMed  Google Scholar 

  29. Awh CC, Miller JB, Wu DM, et al. Leukostasis retinopathy: a new clinical manifestation of chronic myeloid leukemia with severe hyperleukocytosis. Ophthal Surg Lasers Imaging Retina. 2015;46:768–70.

    Article  Google Scholar 

  30. Mehta AB, Goldman JM, Kohner E. Hyperleucocytic retinopathy in chronic granulocytic leukaemia: the role of intensive leucapheresis. Br J Haematol. 1984;56:661.

    Article  CAS  PubMed  Google Scholar 

  31. Sharma T, Grewal J, Gupta S, Murray PI. Ophthalmic manifestations of acute leukaemias: the ophthalmologist’s role. Eye (Lond). 2004;18:663–72.

    Article  CAS  Google Scholar 

  32. Nikaido H, Mishima H, Ono H, et al. Leukemic involvement of the optic nerve. Am J Ophthalmol. 1988;105:294–8.

    Article  CAS  PubMed  Google Scholar 

  33. Lin YC, Wang AG, Yen MY. Leukaemic infiltration of the optic nerve as the initial manifestation of leukaemic relapse. Eye. 2004;18:546–50.

    Article  PubMed  Google Scholar 

  34. Reddy SC, Menon BS. A prospective study of ocular manifestations in childhood acute leukaemia. Acta Ophthalmol Scand. 1998;76:700.

    Article  CAS  PubMed  Google Scholar 

  35. Gertz MA, Kyle RA. Hyperviscosity syndrome. J Intensive Care Med. 1995;10:128–41.

    Article  CAS  PubMed  Google Scholar 

  36. Feman SS, Stein RS. Waldenstrom’s macroglobulinemia, a hyperviscosity manifestation of venous stasis retinopathy. Int Ophthalmol. 1981;4:107–12.

    Article  CAS  PubMed  Google Scholar 

  37. Mansour AM, Arevalo JF, Badal J, et al. Paraproteinemic maculopathy. Ophthalmology. 2014;121:1925–32.

    Article  PubMed  Google Scholar 

  38. Chong DY, Comer GM, Trobe JD. Optic disc edema, cystoid macular edema, and elevated vascular endothelial growth factor in a patient with POEMS syndrome. J Neuroophthalmol. 2007;27:180–3.

    Article  PubMed  Google Scholar 

  39. Sen HN, Chan CC, Caruso RC, et al. Waldenstrom’s macroglobulinemia-associated retinopathy. Ophthalmology. 2004;111:535–9.

    Article  PubMed  Google Scholar 

  40. Gertz MA. Waldenstrom macroglobulinemia: 2011 update on diagnosis, risk stratification, and management. Am J Hematol. 2011;86:411–6.

    Article  PubMed  Google Scholar 

  41. Pece A, Yannuzzi L, Sannace C, et al. Chorioretinal involvement in primary systemic nonfamilial amyloidosis. Am J Ophthalmol. 2000;130:250.

    Article  CAS  PubMed  Google Scholar 

  42. Rajagopal R, Apte RS. Retinal manifestations of thrombophilic and hyperviscosity syndromes. Surv Ophthalmol. 2016;61:236–47.

    Article  PubMed  Google Scholar 

  43. Kuhli C, Hattenbach LO, Scharrer I, et al. High prevalence of resistance to APC in young patients with retinal vein occlusion. Graefes Arch Clin Exp Ophthalmol. 2002;240:163–8.

    Article  PubMed  Google Scholar 

  44. Martin SC, Rauz S, Marr JE, et al. Plasma total homocysteine and retinal vascular disease. Eye (Lond). 2000;14:590–3.

    Article  Google Scholar 

  45. Loewenstein A, Goldstein M, Winder A, et al. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Ophthalmology. 1999;106:1817–20.

    Article  CAS  PubMed  Google Scholar 

  46. Bertram B, Remky A, Arend O, et al. Protein C, protein S, and antithrombin III in acute ocular occlusive diseases. Ger J Ophthalmol. 1995;4:332–5.

    CAS  PubMed  Google Scholar 

  47. Greiner K, Hafner G, Dick B, et al. Retinal vascular occlusion and deficiencies in the protein C pathway. Am J Ophthalmol. 1999;128:69–74.

    Article  CAS  PubMed  Google Scholar 

  48. Meyer CH, Callizo J, Mennel S, Schmidt JC. Complete resorption of retinal hemorrhages in idiopathic thrombocytopenic purpura. Eur J Ophthalmol. 2007;17:128–9.

    CAS  PubMed  Google Scholar 

  49. Cogan DG. Ocular involvement in disseminated intravascular coagulopathy. Arch Ophthalmol. 1975;93:1.

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Giulio Barteselli .

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Barteselli, G., Di Nicola, M., Dell’Arti, L. (2018). Retinal Manifestations in Hematological Disorders. In: Chhablani, J., Majumder, P., Arevalo, J. (eds) Retinal and Choroidal Imaging in Systemic Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-10-5461-7_4

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  • DOI: https://doi.org/10.1007/978-981-10-5461-7_4

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