The minor thalassemia has always been considered as an asymptomatic disease in the majority of cases. However, according to the literature, the poor chronic retinal perfusion related to a minor thalassemia can produce ocular manifestations as venous occlusion and ischemic retinopathy, especially in the presence of other risk factors. This short report describes a rare observation of a patient with an anterior ischemic optic neuropathy and branch retinal artery occlusion revealing a minor beta-thalassemia.
Keywords: Anterior ischemic optic neuropathy, ischemic retinopathy, ocular manifestations, the minor thalassemia
|How to cite this URL:|
Belfaiza S, Ali AE, Jeddou I, Abdellaoui T, Reda K, Oubaaz A. Anterior ischemic optic neuropathy and branch retinal artery occlusion: An uncommon finding in thalassemia minor. Indian J Med Spec [Epub ahead of print] [cited 2020 Aug 5]. Available from: http://www.ijms.in/preprintarticle.asp?id=291052
| Introduction|| |
Beta-thalassemia is a common hemoglobinopathy frequently observed in patients of Mediterranean countries. Its symptomatology is depending on its severity, the major and intermediate beta-thalassemias are often symptomatic, but the minor form is usually latent and its ischemic retinal complications are very rarely reported in the literature., We report the case of a patient with an ischemic retinopathy and an anterior ischemic optic neuropathy secondary to a minor beta-thalassemia.
| Case Report|| |
We report a 21-year-old patient from nonconsanguineous parents. He had no history of systemic or ocular disease. He presented in our emergency service with complaints of a painless, progressive decrease in vision in both eyes for the past 6 months. His visual acuity was 7/10 in the right and 8/10 in the left eye, respectively. Slit-lamp examination was normal in both eyes. Fundus examination in the right eye revealed a pale optic disc and a peripapillary atrophy with a free vessel appearance [Figure 1] and in the left eye showed a tortuosity of the vessels and a branch retinal artery occlusion with retinal ischemic zones [Figure 2].
|Figure 1: The fundus of the right eye shows a pale optic disc, peripapillary atrophy with a free vessel appearance, and a branch occlusion of retina's central artery|
Click here to view
|Figure 2: The fundus of the left eye shows a tortuosity of the vessels and a branch retinal artery occlusion with retinal ischemic zones|
Click here to view
Fluorescein angiography revealed a peripapillary and vessel tortuosity with a premacular choroidal neovessel in the right eye [Figure 3] and in the left eye showed a branch retinal artery occlusion as well as areas of retinal ischemia [Figure 4]. Macular optical coherence tomography (OCT) showed a macular atrophy with a choroidal neovessel in the right [Figure 5] and a macular atrophy in the left eye. Optic nerve head topography (OCT) revealed a decrease in thickness of retinal nerve fibers more marked in the left eye.
|Figure 3: The angiography of the right eye shows a peripapillary atrophy and vessel tortuosity with a premacular choroidal neovessel|
Click here to view
|Figure 4: The angiography of the left eye reveals a branch retinal artery occlusion as well as areas of retinal ischemia|
Click here to view
|Figure 5: Macular optical coherence tomography of the right eye shows a macular atrophy with a choroidal neovessel|
Click here to view
Laboratory investigations, including complete blood count, autoimmune markers, thrombophilia markers, and antibody titers for HIV, CMV, HSV, EBV, syphilis, rubella, and toxoplasmosis, were performed. Complete blood count showed a moderate anemia, and hemoglobin (Hb) electrophoresis revealed a rise to 5.5 of Hb A2 supporting the beta-thalassemia minor diagnosis. The results of all other tests were negative. Echo, neck Doppler and computed tomography of the thorax, abdomen, and pelvis were also normal. Through the result of this assessment, the diagnosis of a minor beta-thalassemia was retained. The patient had panretinal photocoagulation to prevent the complication as neovascular glaucoma, and he is currently under supervision.
| Discussion|| |
Thalassemia is a common disease mainly affecting people from the Mediterranean, the Middle East, Asia, and sub-Saharan Africa. It affects women as much as men. Its symptomatology depends on the course and severity of thalassemia (major, intermediate, and minor). The major thalassemia is symptomatic. It manifests clinically as an anemia with variable depth. Its ocular complications are described in the literature., There are two types of ocular manifestations: the first type may be conjunctival (venous tortuosity) or retinal (Paleness FO [paleness of fundus of the eye], muscle pigmentation, venous tortuosity, venous occlusion, and ischemic retinopathy). The second type is the iatrogenic ocular manifestations, which include, among others, dry eye syndrome and retinal and choroid ocular occlusive syndrome. This is due to the iron deposition in the endothelium of the retinal and choroidal capillaries.
The minor thalassemia is often asymptomatic. Its ocular manifestations are rarely reported in intermediate and minor forms of thalassemias., A study was reported by Magli et al. about the ocular manifestations in thalassemia minor. They noted that 33% of patients had ophthalmological manifestations. This result proves that the ocular manifestations concern a large number of patients with minor and intermediate thalassemia, which has never been reported in the literature. Concerning the minor form of thalassemia, the complete blood count shows a moderate anemia microcytosis and also a pseudo-polycythemia. These ocular manifestations can be attributed to a hemoconcentration and chronic anemia which cause a retina dysfunction. The same ocular signs associated with a major thalassemia have been described in the minor form, especially in the presence of other risk factors such as systemic diseases, diabetes, hypertension, infection, stress, and hypoxia. Some functional explorations such as systematic retinal angiography and macular OCT are needed for investigating these retinal and vascular complications. A study reported by Yumusak et al. revealed that there is a significant correlation between hemoglobin and choroidal thickness. Another study reported by Cetin et al. found that the patients with minor thalassemia have a decrease in thickness of retinal nerve fibers secondary to an ischemic optic neuropathy which agrees with our case.,
Concerning the therapeutic care, the ischemic retinal complications require urgent treatment because there is a risk of blindness caused by proliferation. Hence, the aim of treatment is the destruction of the ischemic areas and the regression of the neovascularization using the Argon laser or the cryoapplication, and a regular follow-up is necessary because of the latency of this pathology.
| Conclusion|| |
The minor thalassemia has always been considered as an asymptomatic disease, but in our case as well as the few cases reported in the literature, we find that the poor chronic retinal perfusion is related to a minor thalassemia. It may trigger ocular manifestations, especially in the presence of other risk factors. A study with a higher level of evidence is needed to confirm this hypothesis.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Aksoy A, Aslankurt M, Aslan L, Gül Ö, Garipardıç M, Çelik O, et al.
Ocular findings in children with thalassemia major in Eastern Mediterranean. Int J Ophthalmol 2014;7:118-21.
Gosai DK, Mehariya KM, Gosai JB. Study of ocular manifestations in children of thalassemia. Int J Res Med Sciences Gosai DKet al
. Int J Res Med Sci 2014;2:695-8.
Rudd C, Jameson Evans P, Peeney AL. Ocular complications in thalassaemia minor. Br J Ophthal 1953;37:353.
Fusco MR, Mettivier V, Pisapia R. Ocular manifestations in thalassemia minor. Ophthalmologica 1982;184:139-46.
Cetin T, Mutlu FM, Avcu F, Mumcuoglu T, Nevruz O, Ural AU. The effect of beta-thalassemia minor on the optic nerve head analysis. Blood 2005;106:3831.
Yumusak E, Ciftci A, Yalcin S, Sayan CD, Dikel NH, Ornek K. Changes in the choroidal thickness in reproductive-aged women with iron-deficiency anemia. BMC Ophthalmol 2015;15:186.
Jampol LM, Farber M, Rabb MF, Serjeant G. An update on techniques of photocoagulation treatment of proliferative sickle cell retinopathy. Eye (Lond) 1991;5(Pt 2):260-3.
University of Medicine and Pharmacy Mohamed V Rabat, Military Hospital Mohamed V, Rabat
Source of Support: None, Conflict of Interest: None
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]